GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] |
Chr14:20151149..27723796 [GRCh38] Chr14:20619308..28193002 [GRCh37] Chr14:19689148..27262842 [NCBI36] Chr14:14q11.2-12 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 |
copy number loss |
See cases [RCV000051485] |
Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 |
copy number loss |
See cases [RCV000051490] |
Chr14:23548960..41983402 [GRCh38] Chr14:24018169..42452605 [GRCh37] Chr14:23088009..41522355 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3 |
copy number gain |
See cases [RCV000052058] |
Chr14:23260803..23763521 [GRCh38] Chr14:23730012..24232730 [GRCh37] Chr14:22799852..23302570 [NCBI36] Chr14:14q11.2 |
uncertain significance |
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 |
copy number gain |
See cases [RCV000053803] |
Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] |
Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
NM_033400.2(ZFHX2):c.6536G>A (p.Arg2179Gln) |
single nucleotide variant |
Malignant melanoma [RCV000070503] |
Chr14:23523406 [GRCh38] Chr14:23992615 [GRCh37] Chr14:23062455 [NCBI36] Chr14:14q11.2 |
not provided |
NM_033400.2(ZFHX2):c.2536G>A (p.Glu846Lys) |
single nucleotide variant |
Malignant melanoma [RCV000070504] |
Chr14:23532590 [GRCh38] Chr14:24001799 [GRCh37] Chr14:23071639 [NCBI36] Chr14:14q11.2 |
not provided |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 |
copy number gain |
See cases [RCV000137725] |
Chr14:20412587..25018120 [GRCh38] Chr14:20880746..25487326 [GRCh37] Chr14:19950586..24557166 [NCBI36] Chr14:14q11.2-12 |
likely pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 |
copy number gain |
See cases [RCV000143186] |
Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 |
copy number gain |
See cases [RCV000143748] |
Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3 |
pathogenic |
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) |
copy number gain |
not provided [RCV000767822] |
Chr14:19100682..28730087 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 |
copy number gain |
See cases [RCV000240285] |
Chr14:19794561..27768254 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 |
copy number gain |
See cases [RCV000447658] |
Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 |
copy number gain |
See cases [RCV000448273] |
Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_033400.3(ZFHX2):c.2227C>T (p.Arg743Trp) |
single nucleotide variant |
not specified [RCV004307784] |
Chr14:23532899 [GRCh38] Chr14:24002108 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7624T>A (p.Ser2542Thr) |
single nucleotide variant |
not specified [RCV004306305] |
Chr14:23522057 [GRCh38] Chr14:23991266 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_024328.6(THTPA):c.520A>C (p.Lys174Gln) |
single nucleotide variant |
not specified [RCV004297230] |
Chr14:23557277 [GRCh38] Chr14:24026486 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6199C>T (p.Arg2067Cys) |
single nucleotide variant |
ZFHX2-related disorder [RCV003906682]|not specified [RCV004292714] |
Chr14:23523743 [GRCh38] Chr14:23992952 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.5738G>A (p.Arg1913Lys) |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV000576902] |
Chr14:23524204 [GRCh38] Chr14:23993413 [GRCh37] Chr14:14q11.2 |
pathogenic |
NM_033400.3(ZFHX2):c.1951G>A (p.Gly651Arg) |
single nucleotide variant |
not specified [RCV004288158] |
Chr14:23533375 [GRCh38] Chr14:24002584 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1859C>A (p.Pro620Gln) |
single nucleotide variant |
not specified [RCV004329873] |
Chr14:23533467 [GRCh38] Chr14:24002676 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.443C>G (p.Thr148Arg) |
single nucleotide variant |
not specified [RCV004325056] |
Chr14:23557200 [GRCh38] Chr14:24026409 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1414A>G (p.Met472Val) |
single nucleotide variant |
not specified [RCV004320849] |
Chr14:23533912 [GRCh38] Chr14:24003121 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5017A>T (p.Arg1673Trp) |
single nucleotide variant |
not specified [RCV004321114] |
Chr14:23524925 [GRCh38] Chr14:23994134 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5930C>A (p.Pro1977His) |
single nucleotide variant |
not specified [RCV004314204] |
Chr14:23524012 [GRCh38] Chr14:23993221 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2012G>A (p.Gly671Glu) |
single nucleotide variant |
not specified [RCV004297372] |
Chr14:23533314 [GRCh38] Chr14:24002523 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4780G>A (p.Gly1594Ser) |
single nucleotide variant |
not specified [RCV004327952] |
Chr14:23525162 [GRCh38] Chr14:23994371 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1162C>A (p.Pro388Thr) |
single nucleotide variant |
not specified [RCV004319872] |
Chr14:23534164 [GRCh38] Chr14:24003373 [GRCh37] Chr14:14q11.2 |
uncertain significance |
GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1 |
copy number loss |
not provided [RCV000683589] |
Chr14:23840034..24057640 [GRCh37] Chr14:14q11.2 |
uncertain significance |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_033400.3(ZFHX2):c.4877A>G (p.Glu1626Gly) |
single nucleotide variant |
not provided [RCV003312277]|not specified [RCV004686772] |
Chr14:23525065 [GRCh38] Chr14:23994274 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6034G>A (p.Glu2012Lys) |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV003459030] |
Chr14:23523908 [GRCh38] Chr14:23993117 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4866C>T (p.Asp1622=) |
single nucleotide variant |
not provided [RCV000967321] |
Chr14:23525076 [GRCh38] Chr14:23994285 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.5006C>T (p.Ala1669Val) |
single nucleotide variant |
not provided [RCV000950456] |
Chr14:23524936 [GRCh38] Chr14:23994145 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.2134G>A (p.Asp712Asn) |
single nucleotide variant |
ZFHX2-related disorder [RCV003915999]|not provided [RCV000959441] |
Chr14:23532992 [GRCh38] Chr14:24002201 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.7394C>T (p.Pro2465Leu) |
single nucleotide variant |
ZFHX2-related disorder [RCV003905961]|not provided [RCV000968916] |
Chr14:23522287 [GRCh38] Chr14:23991496 [GRCh37] Chr14:14q11.2 |
benign |
GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3 |
copy number gain |
not provided [RCV000856644] |
Chr14:21717093..24027220 [GRCh37] Chr14:14q11.2 |
likely pathogenic |
NM_033400.3(ZFHX2):c.4953C>A (p.Arg1651=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003950806]|not provided [RCV000914570] |
Chr14:23524989 [GRCh38] Chr14:23994198 [GRCh37] Chr14:14q11.2 |
benign|likely benign |
NM_033400.3(ZFHX2):c.1694C>G (p.Thr565Ser) |
single nucleotide variant |
not specified [RCV004300833] |
Chr14:23533632 [GRCh38] Chr14:24002841 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4233G>C (p.Glu1411Asp) |
single nucleotide variant |
not specified [RCV004309335] |
Chr14:23525709 [GRCh38] Chr14:23994918 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NC_000014.8:g.(?_23242819)_(25103366_?)dup |
duplication |
Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] |
Chr14:23242819..25103366 [GRCh37] Chr14:14q11.2-12 |
uncertain significance |
NM_033400.3(ZFHX2):c.5833C>T (p.Leu1945Phe) |
single nucleotide variant |
not specified [RCV004308084] |
Chr14:23524109 [GRCh38] Chr14:23993318 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.500C>T (p.Thr167Ile) |
single nucleotide variant |
not specified [RCV004288055] |
Chr14:23534826 [GRCh38] Chr14:24004035 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3594G>A (p.Glu1198=) |
single nucleotide variant |
not provided [RCV000917747] |
Chr14:23526348 [GRCh38] Chr14:23995557 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1677A>C (p.Gly559=) |
single nucleotide variant |
not provided [RCV000981161] |
Chr14:23533649 [GRCh38] Chr14:24002858 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1521C>T (p.Pro507=) |
single nucleotide variant |
not provided [RCV000981162] |
Chr14:23533805 [GRCh38] Chr14:24003014 [GRCh37] Chr14:14q11.2 |
likely benign |
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 |
copy number gain |
not provided [RCV001249358] |
Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1 |
not provided |
NM_033400.3(ZFHX2):c.4018T>G (p.Phe1340Val) |
single nucleotide variant |
ZFHX2-related disorder [RCV003930759]|not provided [RCV000889737] |
Chr14:23525924 [GRCh38] Chr14:23995133 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.295G>C (p.Glu99Gln) |
single nucleotide variant |
ZFHX2-related disorder [RCV003903302]|not provided [RCV000957198] |
Chr14:23535031 [GRCh38] Chr14:24004240 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.6398C>A (p.Thr2133Asn) |
single nucleotide variant |
not provided [RCV000957905] |
Chr14:23523544 [GRCh38] Chr14:23992753 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.5320T>A (p.Cys1774Ser) |
single nucleotide variant |
not specified [RCV004326844] |
Chr14:23524622 [GRCh38] Chr14:23993831 [GRCh37] Chr14:14q11.2 |
uncertain significance |
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 |
copy number gain |
not provided [RCV001006605] |
Chr14:20511672..44829030 [GRCh37] Chr14:14q11.2-21.2 |
pathogenic |
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) |
copy number gain |
Seizure [RCV002280625] |
Chr14:20511672..47481203 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
NM_033400.3(ZFHX2):c.1190A>C (p.Lys397Thr) |
single nucleotide variant |
not provided [RCV001354610] |
Chr14:23534136 [GRCh38] Chr14:24003345 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2875+23C>T |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV002245263]|not provided [RCV004715634] |
Chr14:23530097 [GRCh38] Chr14:23999306 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.4424G>A (p.Gly1475Glu) |
single nucleotide variant |
not provided [RCV001726908] |
Chr14:23525518 [GRCh38] Chr14:23994727 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6409A>C (p.Ser2137Arg) |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV002245260]|ZFHX2-related disorder [RCV003973364]|not provided [RCV004715631] |
Chr14:23523533 [GRCh38] Chr14:23992742 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.4634T>C (p.Val1545Ala) |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV002245261]|ZFHX2-related disorder [RCV003971208]|not provided [RCV004715632] |
Chr14:23525308 [GRCh38] Chr14:23994517 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.7613C>T (p.Ala2538Val) |
single nucleotide variant |
not provided [RCV001815759]|not specified [RCV004040947] |
Chr14:23522068 [GRCh38] Chr14:23991277 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2918G>A (p.Ser973Asn) |
single nucleotide variant |
not provided [RCV002211263]|not specified [RCV004047191] |
Chr14:23529726 [GRCh38] Chr14:23998935 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3135+41T>C |
single nucleotide variant |
Indifference to pain, congenital, autosomal dominant [RCV002245262]|not provided [RCV004715633] |
Chr14:23527563 [GRCh38] Chr14:23996772 [GRCh37] Chr14:14q11.2 |
benign |
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del |
deletion |
Brain-lung-thyroid syndrome [RCV002221171] |
Chr14:36986276..36987308 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
NM_033400.3(ZFHX2):c.696C>T (p.His232=) |
single nucleotide variant |
not provided [RCV002275997] |
Chr14:23534630 [GRCh38] Chr14:24003839 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3503G>A (p.Arg1168His) |
single nucleotide variant |
not provided [RCV002292884] |
Chr14:23526439 [GRCh38] Chr14:23995648 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7109A>T (p.Tyr2370Phe) |
single nucleotide variant |
not specified [RCV004310884] |
Chr14:23522572 [GRCh38] Chr14:23991781 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6473A>G (p.Tyr2158Cys) |
single nucleotide variant |
not specified [RCV004237717] |
Chr14:23523469 [GRCh38] Chr14:23992678 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1762A>G (p.Met588Val) |
single nucleotide variant |
not specified [RCV004164235] |
Chr14:23533564 [GRCh38] Chr14:24002773 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_003917.5(AP1G2):c.2246A>G (p.Asn749Ser) |
single nucleotide variant |
not specified [RCV004211948] |
Chr14:23559948 [GRCh38] Chr14:24029157 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5362C>T (p.Arg1788Cys) |
single nucleotide variant |
not specified [RCV004247007] |
Chr14:23524580 [GRCh38] Chr14:23993789 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2238G>A (p.Pro746=) |
single nucleotide variant |
not provided [RCV002511773] |
Chr14:23532888 [GRCh38] Chr14:24002097 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2636C>T (p.Thr879Ile) |
single nucleotide variant |
not specified [RCV004191588] |
Chr14:23531645 [GRCh38] Chr14:24000854 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7073C>T (p.Pro2358Leu) |
single nucleotide variant |
not specified [RCV004219374] |
Chr14:23522608 [GRCh38] Chr14:23991817 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2453C>G (p.Pro818Arg) |
single nucleotide variant |
not specified [RCV004160044] |
Chr14:23532673 [GRCh38] Chr14:24001882 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4285G>A (p.Asp1429Asn) |
single nucleotide variant |
not specified [RCV004191021] |
Chr14:23525657 [GRCh38] Chr14:23994866 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6471C>A (p.Phe2157Leu) |
single nucleotide variant |
not specified [RCV004207755] |
Chr14:23523471 [GRCh38] Chr14:23992680 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.617C>A (p.Ala206Asp) |
single nucleotide variant |
not specified [RCV004149437] |
Chr14:23534709 [GRCh38] Chr14:24003918 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.57G>T (p.Glu19Asp) |
single nucleotide variant |
not specified [RCV004125312] |
Chr14:23556814 [GRCh38] Chr14:24026023 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5563C>T (p.Pro1855Ser) |
single nucleotide variant |
not specified [RCV004195936] |
Chr14:23524379 [GRCh38] Chr14:23993588 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1918C>G (p.Leu640Val) |
single nucleotide variant |
not specified [RCV004139928] |
Chr14:23533408 [GRCh38] Chr14:24002617 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.728G>A (p.Arg243His) |
single nucleotide variant |
not specified [RCV004188349] |
Chr14:23534598 [GRCh38] Chr14:24003807 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.537A>C (p.Gln179His) |
single nucleotide variant |
not specified [RCV004199501] |
Chr14:23534789 [GRCh38] Chr14:24003998 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5509G>A (p.Gly1837Ser) |
single nucleotide variant |
not specified [RCV004227698] |
Chr14:23524433 [GRCh38] Chr14:23993642 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3109G>A (p.Glu1037Lys) |
single nucleotide variant |
not specified [RCV004191556] |
Chr14:23527630 [GRCh38] Chr14:23996839 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5188G>A (p.Gly1730Arg) |
single nucleotide variant |
not specified [RCV004239859] |
Chr14:23524754 [GRCh38] Chr14:23993963 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4078C>G (p.Gln1360Glu) |
single nucleotide variant |
not provided [RCV003427670]|not specified [RCV004219263] |
Chr14:23525864 [GRCh38] Chr14:23995073 [GRCh37] Chr14:14q11.2 |
benign|uncertain significance |
NM_033400.3(ZFHX2):c.5198G>T (p.Gly1733Val) |
single nucleotide variant |
not specified [RCV004189959] |
Chr14:23524744 [GRCh38] Chr14:23993953 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2627C>T (p.Ala876Val) |
single nucleotide variant |
not provided [RCV002511772] |
Chr14:23531654 [GRCh38] Chr14:24000863 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1086A>C (p.Glu362Asp) |
single nucleotide variant |
not specified [RCV004139135] |
Chr14:23534240 [GRCh38] Chr14:24003449 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5764G>T (p.Gly1922Trp) |
single nucleotide variant |
not specified [RCV004223633] |
Chr14:23524178 [GRCh38] Chr14:23993387 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.566C>T (p.Thr189Ile) |
single nucleotide variant |
not specified [RCV004230909] |
Chr14:23558713 [GRCh38] Chr14:24027922 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4693C>T (p.Pro1565Ser) |
single nucleotide variant |
not specified [RCV004139929] |
Chr14:23525249 [GRCh38] Chr14:23994458 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4688G>A (p.Arg1563His) |
single nucleotide variant |
not specified [RCV004224393] |
Chr14:23525254 [GRCh38] Chr14:23994463 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1915G>A (p.Ala639Thr) |
single nucleotide variant |
not specified [RCV004235758] |
Chr14:23533411 [GRCh38] Chr14:24002620 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.496C>G (p.Leu166Val) |
single nucleotide variant |
ZFHX2-related disorder [RCV003918986]|not specified [RCV004214712] |
Chr14:23534830 [GRCh38] Chr14:24004039 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.652G>A (p.Gly218Arg) |
single nucleotide variant |
not specified [RCV004080970] |
Chr14:23534674 [GRCh38] Chr14:24003883 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1949C>T (p.Pro650Leu) |
single nucleotide variant |
ZFHX2-related disorder [RCV003953972]|not specified [RCV004081888] |
Chr14:23533377 [GRCh38] Chr14:24002586 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.4559G>A (p.Arg1520Gln) |
single nucleotide variant |
not specified [RCV004171298] |
Chr14:23525383 [GRCh38] Chr14:23994592 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2059C>G (p.Pro687Ala) |
single nucleotide variant |
not specified [RCV004197518] |
Chr14:23533067 [GRCh38] Chr14:24002276 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1547C>G (p.Ser516Cys) |
single nucleotide variant |
not specified [RCV004085488] |
Chr14:23533779 [GRCh38] Chr14:24002988 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2024G>A (p.Arg675His) |
single nucleotide variant |
not specified [RCV004123928] |
Chr14:23533302 [GRCh38] Chr14:24002511 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1852C>A (p.Pro618Thr) |
single nucleotide variant |
not specified [RCV004234487] |
Chr14:23533474 [GRCh38] Chr14:24002683 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1163C>A (p.Pro388Gln) |
single nucleotide variant |
not specified [RCV004226764] |
Chr14:23534163 [GRCh38] Chr14:24003372 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6760C>T (p.Leu2254Phe) |
single nucleotide variant |
not specified [RCV004183179] |
Chr14:23522921 [GRCh38] Chr14:23992130 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7021T>A (p.Leu2341Met) |
single nucleotide variant |
not specified [RCV004095350] |
Chr14:23522660 [GRCh38] Chr14:23991869 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1337C>T (p.Ser446Leu) |
single nucleotide variant |
not specified [RCV004146929] |
Chr14:23533989 [GRCh38] Chr14:24003198 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_003917.5(AP1G2):c.2207G>A (p.Arg736Gln) |
single nucleotide variant |
not specified [RCV004184443] |
Chr14:23559987 [GRCh38] Chr14:24029196 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2760G>C (p.Gln920His) |
single nucleotide variant |
not specified [RCV004247072] |
Chr14:23531521 [GRCh38] Chr14:24000730 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7691C>T (p.Thr2564Met) |
single nucleotide variant |
not specified [RCV004203191] |
Chr14:23521990 [GRCh38] Chr14:23991199 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1753C>T (p.Arg585Cys) |
single nucleotide variant |
not specified [RCV004099962] |
Chr14:23533573 [GRCh38] Chr14:24002782 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5950G>A (p.Gly1984Arg) |
single nucleotide variant |
not specified [RCV004119631] |
Chr14:23523992 [GRCh38] Chr14:23993201 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2950T>C (p.Tyr984His) |
single nucleotide variant |
not specified [RCV004126708] |
Chr14:23527789 [GRCh38] Chr14:23996998 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3572A>G (p.Tyr1191Cys) |
single nucleotide variant |
not specified [RCV004195789] |
Chr14:23526370 [GRCh38] Chr14:23995579 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3062G>A (p.Arg1021Gln) |
single nucleotide variant |
not specified [RCV004198175] |
Chr14:23527677 [GRCh38] Chr14:23996886 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2753C>G (p.Ala918Gly) |
single nucleotide variant |
not specified [RCV004242495] |
Chr14:23531528 [GRCh38] Chr14:24000737 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1048A>C (p.Thr350Pro) |
single nucleotide variant |
not specified [RCV004098320] |
Chr14:23534278 [GRCh38] Chr14:24003487 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.670C>T (p.Pro224Ser) |
single nucleotide variant |
not specified [RCV004127519] |
Chr14:23534656 [GRCh38] Chr14:24003865 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1975G>A (p.Glu659Lys) |
single nucleotide variant |
not specified [RCV004213196] |
Chr14:23533351 [GRCh38] Chr14:24002560 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1085A>G (p.Glu362Gly) |
single nucleotide variant |
not specified [RCV004204809] |
Chr14:23534241 [GRCh38] Chr14:24003450 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4510C>T (p.Arg1504Cys) |
single nucleotide variant |
not specified [RCV004159794] |
Chr14:23525432 [GRCh38] Chr14:23994641 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7076C>A (p.Pro2359Gln) |
single nucleotide variant |
not specified [RCV004110569] |
Chr14:23522605 [GRCh38] Chr14:23991814 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5731C>T (p.Arg1911Trp) |
single nucleotide variant |
not specified [RCV004153069] |
Chr14:23524211 [GRCh38] Chr14:23993420 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4511G>A (p.Arg1504His) |
single nucleotide variant |
not specified [RCV004145025] |
Chr14:23525431 [GRCh38] Chr14:23994640 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7427T>A (p.Phe2476Tyr) |
single nucleotide variant |
not specified [RCV004231722] |
Chr14:23522254 [GRCh38] Chr14:23991463 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3694G>A (p.Gly1232Arg) |
single nucleotide variant |
not specified [RCV004073685] |
Chr14:23526248 [GRCh38] Chr14:23995457 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5734G>A (p.Glu1912Lys) |
single nucleotide variant |
not specified [RCV004117863] |
Chr14:23524208 [GRCh38] Chr14:23993417 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4310G>A (p.Arg1437His) |
single nucleotide variant |
not specified [RCV004236795] |
Chr14:23525632 [GRCh38] Chr14:23994841 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.896G>A (p.Arg299His) |
single nucleotide variant |
not provided [RCV004546781]|not specified [RCV004222771] |
Chr14:23534430 [GRCh38] Chr14:24003639 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.7297G>A (p.Asp2433Asn) |
single nucleotide variant |
not specified [RCV004229417] |
Chr14:23522384 [GRCh38] Chr14:23991593 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4885G>A (p.Ala1629Thr) |
single nucleotide variant |
not specified [RCV004236723] |
Chr14:23525057 [GRCh38] Chr14:23994266 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3838A>G (p.Lys1280Glu) |
single nucleotide variant |
not specified [RCV004099389] |
Chr14:23526104 [GRCh38] Chr14:23995313 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6734A>G (p.Asn2245Ser) |
single nucleotide variant |
not specified [RCV004198326] |
Chr14:23523208 [GRCh38] Chr14:23992417 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7393C>T (p.Pro2465Ser) |
single nucleotide variant |
not specified [RCV004106604] |
Chr14:23522288 [GRCh38] Chr14:23991497 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7544G>A (p.Arg2515His) |
single nucleotide variant |
not specified [RCV004072870] |
Chr14:23522137 [GRCh38] Chr14:23991346 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.638A>G (p.Asn213Ser) |
single nucleotide variant |
not specified [RCV004211131] |
Chr14:23558785 [GRCh38] Chr14:24027994 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2465G>A (p.Arg822His) |
single nucleotide variant |
not specified [RCV004080897] |
Chr14:23532661 [GRCh38] Chr14:24001870 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.32A>G (p.Lys11Arg) |
single nucleotide variant |
not specified [RCV004107354] |
Chr14:23556789 [GRCh38] Chr14:24025998 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4951C>G (p.Arg1651Gly) |
single nucleotide variant |
not specified [RCV004154624] |
Chr14:23524991 [GRCh38] Chr14:23994200 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.382C>A (p.Leu128Met) |
single nucleotide variant |
not specified [RCV004124861] |
Chr14:23534944 [GRCh38] Chr14:24004153 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4784G>A (p.Arg1595His) |
single nucleotide variant |
not provided [RCV004598257]|not specified [RCV004238505] |
Chr14:23525158 [GRCh38] Chr14:23994367 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.7432C>T (p.Arg2478Trp) |
single nucleotide variant |
not specified [RCV004210188] |
Chr14:23522249 [GRCh38] Chr14:23991458 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.436G>A (p.Glu146Lys) |
single nucleotide variant |
ZFHX2-related disorder [RCV003946384]|not specified [RCV004183597] |
Chr14:23534890 [GRCh38] Chr14:24004099 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.4513C>T (p.Arg1505Cys) |
single nucleotide variant |
not specified [RCV004234880] |
Chr14:23525429 [GRCh38] Chr14:23994638 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_003917.5(AP1G2):c.2329A>C (p.Asn777His) |
single nucleotide variant |
not specified [RCV004081563] |
Chr14:23559778 [GRCh38] Chr14:24028987 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2020G>A (p.Ala674Thr) |
single nucleotide variant |
not specified [RCV004141045] |
Chr14:23533306 [GRCh38] Chr14:24002515 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2582C>T (p.Ala861Val) |
single nucleotide variant |
not specified [RCV004076540] |
Chr14:23531699 [GRCh38] Chr14:24000908 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1094T>G (p.Val365Gly) |
single nucleotide variant |
not specified [RCV004112713] |
Chr14:23534232 [GRCh38] Chr14:24003441 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5281G>A (p.Ala1761Thr) |
single nucleotide variant |
not specified [RCV004182029] |
Chr14:23524661 [GRCh38] Chr14:23993870 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6530C>T (p.Ala2177Val) |
single nucleotide variant |
not specified [RCV004081734] |
Chr14:23523412 [GRCh38] Chr14:23992621 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5494C>T (p.Arg1832Trp) |
single nucleotide variant |
not specified [RCV004088580] |
Chr14:23524448 [GRCh38] Chr14:23993657 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2792G>A (p.Arg931Gln) |
single nucleotide variant |
ZFHX2-related disorder [RCV003973745]|not specified [RCV004197659] |
Chr14:23531489 [GRCh38] Chr14:24000698 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.2683C>T (p.Arg895Cys) |
single nucleotide variant |
not specified [RCV004089908] |
Chr14:23531598 [GRCh38] Chr14:24000807 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3895G>A (p.Glu1299Lys) |
single nucleotide variant |
not provided [RCV003456561]|not specified [RCV004192682] |
Chr14:23526047 [GRCh38] Chr14:23995256 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.569A>G (p.His190Arg) |
single nucleotide variant |
not specified [RCV004123507] |
Chr14:23534757 [GRCh38] Chr14:24003966 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2983G>A (p.Val995Met) |
single nucleotide variant |
not specified [RCV004215686] |
Chr14:23527756 [GRCh38] Chr14:23996965 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5326A>G (p.Ile1776Val) |
single nucleotide variant |
not specified [RCV004085677] |
Chr14:23524616 [GRCh38] Chr14:23993825 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2093G>A (p.Gly698Asp) |
single nucleotide variant |
not specified [RCV004221140] |
Chr14:23533033 [GRCh38] Chr14:24002242 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.838G>C (p.Glu280Gln) |
single nucleotide variant |
not specified [RCV004105561] |
Chr14:23534488 [GRCh38] Chr14:24003697 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2114C>A (p.Pro705His) |
single nucleotide variant |
not specified [RCV004232937] |
Chr14:23533012 [GRCh38] Chr14:24002221 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5136A>C (p.Glu1712Asp) |
single nucleotide variant |
not specified [RCV004304504] |
Chr14:23524806 [GRCh38] Chr14:23994015 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.472G>A (p.Val158Ile) |
single nucleotide variant |
not specified [RCV004316907] |
Chr14:23557229 [GRCh38] Chr14:24026438 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1163C>G (p.Pro388Arg) |
single nucleotide variant |
not specified [RCV004330943] |
Chr14:23534163 [GRCh38] Chr14:24003372 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2668C>T (p.Arg890Cys) |
single nucleotide variant |
not specified [RCV004271080] |
Chr14:23531613 [GRCh38] Chr14:24000822 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7562G>A (p.Arg2521His) |
single nucleotide variant |
not specified [RCV004267840] |
Chr14:23522119 [GRCh38] Chr14:23991328 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6850G>A (p.Asp2284Asn) |
single nucleotide variant |
not specified [RCV004266567] |
Chr14:23522831 [GRCh38] Chr14:23992040 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3922A>C (p.Lys1308Gln) |
single nucleotide variant |
not specified [RCV004267453] |
Chr14:23526020 [GRCh38] Chr14:23995229 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6568G>A (p.Asp2190Asn) |
single nucleotide variant |
not specified [RCV004266288] |
Chr14:23523374 [GRCh38] Chr14:23992583 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.562G>C (p.Glu188Gln) |
single nucleotide variant |
not specified [RCV004251967] |
Chr14:23558709 [GRCh38] Chr14:24027918 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1272C>G (p.Asp424Glu) |
single nucleotide variant |
not specified [RCV004258508] |
Chr14:23534054 [GRCh38] Chr14:24003263 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5384C>T (p.Ser1795Phe) |
single nucleotide variant |
not specified [RCV004261901] |
Chr14:23524558 [GRCh38] Chr14:23993767 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4604A>C (p.Lys1535Thr) |
single nucleotide variant |
not specified [RCV004284902] |
Chr14:23525338 [GRCh38] Chr14:23994547 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7543C>T (p.Arg2515Cys) |
single nucleotide variant |
not specified [RCV004264503] |
Chr14:23522138 [GRCh38] Chr14:23991347 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.65T>C (p.Leu22Pro) |
single nucleotide variant |
not specified [RCV004269927] |
Chr14:23556822 [GRCh38] Chr14:24026031 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.298G>A (p.Glu100Lys) |
single nucleotide variant |
not specified [RCV004277130] |
Chr14:23535028 [GRCh38] Chr14:24004237 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3115G>A (p.Val1039Ile) |
single nucleotide variant |
not specified [RCV004261672] |
Chr14:23527624 [GRCh38] Chr14:23996833 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3088C>G (p.His1030Asp) |
single nucleotide variant |
not specified [RCV004273013] |
Chr14:23527651 [GRCh38] Chr14:23996860 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4327C>T (p.Leu1443Phe) |
single nucleotide variant |
not specified [RCV004258157] |
Chr14:23525615 [GRCh38] Chr14:23994824 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1885C>G (p.Pro629Ala) |
single nucleotide variant |
not specified [RCV004287060] |
Chr14:23533441 [GRCh38] Chr14:24002650 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7348C>T (p.Arg2450Cys) |
single nucleotide variant |
not specified [RCV004254692] |
Chr14:23522333 [GRCh38] Chr14:23991542 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7349G>A (p.Arg2450His) |
single nucleotide variant |
not specified [RCV004270932] |
Chr14:23522332 [GRCh38] Chr14:23991541 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6197G>A (p.Arg2066Gln) |
single nucleotide variant |
not specified [RCV004251754] |
Chr14:23523745 [GRCh38] Chr14:23992954 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5621G>A (p.Arg1874His) |
single nucleotide variant |
ZFHX2-related disorder [RCV003966291]|not specified [RCV004262951] |
Chr14:23524321 [GRCh38] Chr14:23993530 [GRCh37] Chr14:14q11.2 |
likely benign|uncertain significance |
NM_033400.3(ZFHX2):c.1151G>C (p.Gly384Ala) |
single nucleotide variant |
not specified [RCV004256048] |
Chr14:23534175 [GRCh38] Chr14:24003384 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7445G>A (p.Gly2482Asp) |
single nucleotide variant |
not specified [RCV004251124] |
Chr14:23522236 [GRCh38] Chr14:23991445 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3830G>A (p.Arg1277Gln) |
single nucleotide variant |
not specified [RCV004323853] |
Chr14:23526112 [GRCh38] Chr14:23995321 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.391G>A (p.Val131Met) |
single nucleotide variant |
not specified [RCV004308000] |
Chr14:23557148 [GRCh38] Chr14:24026357 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7586G>A (p.Gly2529Asp) |
single nucleotide variant |
ZFHX2-related disorder [RCV003954088]|not provided [RCV003326889] |
Chr14:23522095 [GRCh38] Chr14:23991304 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6964T>A (p.Ser2322Thr) |
single nucleotide variant |
not specified [RCV004344709] |
Chr14:23522717 [GRCh38] Chr14:23991926 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.119A>G (p.Tyr40Cys) |
single nucleotide variant |
not specified [RCV004349830] |
Chr14:23556876 [GRCh38] Chr14:24026085 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4703G>A (p.Arg1568Gln) |
single nucleotide variant |
not specified [RCV004336064] |
Chr14:23525239 [GRCh38] Chr14:23994448 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7361G>A (p.Arg2454His) |
single nucleotide variant |
not specified [RCV004342386] |
Chr14:23522320 [GRCh38] Chr14:23991529 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.41C>T (p.Pro14Leu) |
single nucleotide variant |
not specified [RCV004363571] |
Chr14:23556798 [GRCh38] Chr14:24026007 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5639C>T (p.Ser1880Phe) |
single nucleotide variant |
not specified [RCV004350694] |
Chr14:23524303 [GRCh38] Chr14:23993512 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6331G>A (p.Val2111Ile) |
single nucleotide variant |
not specified [RCV004352069] |
Chr14:23523611 [GRCh38] Chr14:23992820 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1691A>C (p.Lys564Thr) |
single nucleotide variant |
not specified [RCV004354253] |
Chr14:23533635 [GRCh38] Chr14:24002844 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6965C>A (p.Ser2322Tyr) |
single nucleotide variant |
not specified [RCV004344710] |
Chr14:23522716 [GRCh38] Chr14:23991925 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5696G>A (p.Arg1899Gln) |
single nucleotide variant |
not specified [RCV004339915] |
Chr14:23524246 [GRCh38] Chr14:23993455 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.745C>T (p.Pro249Ser) |
single nucleotide variant |
not specified [RCV004366166] |
Chr14:23534581 [GRCh38] Chr14:24003790 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6043A>C (p.Lys2015Gln) |
single nucleotide variant |
not specified [RCV004359607] |
Chr14:23523899 [GRCh38] Chr14:23993108 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5620C>T (p.Arg1874Cys) |
single nucleotide variant |
not specified [RCV004363467] |
Chr14:23524322 [GRCh38] Chr14:23993531 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.29G>T (p.Arg10Leu) |
single nucleotide variant |
not specified [RCV004350865] |
Chr14:23556786 [GRCh38] Chr14:24025995 [GRCh37] Chr14:14q11.2 |
uncertain significance |
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 |
copy number gain |
not provided [RCV003485022] |
Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1 |
pathogenic |
NM_033400.3(ZFHX2):c.2571C>A (p.Asp857Glu) |
single nucleotide variant |
not provided [RCV003456864]|not specified [RCV004686779] |
Chr14:23531710 [GRCh38] Chr14:24000919 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7104G>A (p.Gly2368=) |
single nucleotide variant |
not provided [RCV003424966] |
Chr14:23522577 [GRCh38] Chr14:23991786 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6003C>T (p.Pro2001=) |
single nucleotide variant |
not provided [RCV003424967] |
Chr14:23523939 [GRCh38] Chr14:23993148 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2628G>A (p.Ala876=) |
single nucleotide variant |
not provided [RCV003424975] |
Chr14:23531653 [GRCh38] Chr14:24000862 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2464C>T (p.Arg822Cys) |
single nucleotide variant |
not provided [RCV003424976] |
Chr14:23532662 [GRCh38] Chr14:24001871 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1471G>A (p.Ala491Thr) |
single nucleotide variant |
not provided [RCV003456865] |
Chr14:23533855 [GRCh38] Chr14:24003064 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.4227G>A (p.Glu1409=) |
single nucleotide variant |
not provided [RCV003424970] |
Chr14:23525715 [GRCh38] Chr14:23994924 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1440C>T (p.Asn480=) |
single nucleotide variant |
not provided [RCV003424980] |
Chr14:23533886 [GRCh38] Chr14:24003095 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.621C>T (p.Phe207=) |
single nucleotide variant |
not provided [RCV003424982] |
Chr14:23534705 [GRCh38] Chr14:24003914 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.5406C>G (p.Pro1802=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003946535]|not provided [RCV003424969] |
Chr14:23524536 [GRCh38] Chr14:23993745 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3197T>C (p.Leu1066Pro) |
single nucleotide variant |
not provided [RCV003424973] |
Chr14:23526912 [GRCh38] Chr14:23996121 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3076T>C (p.Phe1026Leu) |
single nucleotide variant |
not provided [RCV003424974] |
Chr14:23527663 [GRCh38] Chr14:23996872 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1779C>T (p.His593=) |
single nucleotide variant |
not provided [RCV003424979] |
Chr14:23533547 [GRCh38] Chr14:24002756 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.312del (p.Leu105fs) |
deletion |
ZFHX2-related disorder [RCV003402930] |
Chr14:23535014 [GRCh38] Chr14:24004223 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2377C>T (p.Arg793Trp) |
single nucleotide variant |
not provided [RCV003424977] |
Chr14:23532749 [GRCh38] Chr14:24001958 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.1841G>A (p.Gly614Glu) |
single nucleotide variant |
ZFHX2-related disorder [RCV003954138]|not provided [RCV003424978] |
Chr14:23533485 [GRCh38] Chr14:24002694 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.5792C>G (p.Pro1931Arg) |
single nucleotide variant |
not provided [RCV003424968] |
Chr14:23524150 [GRCh38] Chr14:23993359 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4008A>C (p.Pro1336=) |
single nucleotide variant |
not provided [RCV003424971] |
Chr14:23525934 [GRCh38] Chr14:23995143 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3219C>A (p.Pro1073=) |
single nucleotide variant |
not provided [RCV003424972] |
Chr14:23526890 [GRCh38] Chr14:23996099 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1104C>T (p.Gly368=) |
single nucleotide variant |
not provided [RCV003424981] |
Chr14:23534222 [GRCh38] Chr14:24003431 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.385T>C (p.Ser129Pro) |
single nucleotide variant |
ZFHX2-related disorder [RCV003939260]|not provided [RCV003885726] |
Chr14:23534941 [GRCh38] Chr14:24004150 [GRCh37] Chr14:14q11.2 |
benign|likely benign |
NM_033400.3(ZFHX2):c.2705G>A (p.Arg902His) |
single nucleotide variant |
ZFHX2-related disorder [RCV003919853] |
Chr14:23531576 [GRCh38] Chr14:24000785 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.6711G>A (p.Pro2237=) |
single nucleotide variant |
not provided [RCV003884912] |
Chr14:23523231 [GRCh38] Chr14:23992440 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.4284C>T (p.Pro1428=) |
single nucleotide variant |
not provided [RCV003884944] |
Chr14:23525658 [GRCh38] Chr14:23994867 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2133C>T (p.Asp711=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003952312] |
Chr14:23532993 [GRCh38] Chr14:24002202 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3555C>T (p.Leu1185=) |
single nucleotide variant |
not provided [RCV003885738] |
Chr14:23526387 [GRCh38] Chr14:23995596 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2373C>T (p.His791=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003912258] |
Chr14:23532753 [GRCh38] Chr14:24001962 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1648C>A (p.Pro550Thr) |
single nucleotide variant |
ZFHX2-related disorder [RCV003982298] |
Chr14:23533678 [GRCh38] Chr14:24002887 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.6758G>A (p.Gly2253Asp) |
single nucleotide variant |
ZFHX2-related disorder [RCV003941946] |
Chr14:23522923 [GRCh38] Chr14:23992132 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_003917.5(AP1G2):c.2294A>G (p.His765Arg) |
single nucleotide variant |
not specified [RCV004424808] |
Chr14:23559813 [GRCh38] Chr14:24029022 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4584G>A (p.Pro1528=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003914466] |
Chr14:23525358 [GRCh38] Chr14:23994567 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.5406C>A (p.Pro1802=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003976740] |
Chr14:23524536 [GRCh38] Chr14:23993745 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.2104_2106dup (p.Asp702_Ser703insAsp) |
duplication |
not provided [RCV003886771] |
Chr14:23533019..23533020 [GRCh38] Chr14:24002228..24002229 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5100G>A (p.Glu1700=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003961410] |
Chr14:23524842 [GRCh38] Chr14:23994051 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.4034T>C (p.Leu1345Pro) |
single nucleotide variant |
ZFHX2-related disorder [RCV003951455] |
Chr14:23525908 [GRCh38] Chr14:23995117 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6664C>T (p.Arg2222Cys) |
single nucleotide variant |
ZFHX2-related disorder [RCV003924731] |
Chr14:23523278 [GRCh38] Chr14:23992487 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.3435C>G (p.Thr1145=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003952213] |
Chr14:23526507 [GRCh38] Chr14:23995716 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6306T>C (p.Ile2102=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003926866] |
Chr14:23523636 [GRCh38] Chr14:23992845 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1034C>T (p.Pro345Leu) |
single nucleotide variant |
not provided [RCV004547139] |
Chr14:23534292 [GRCh38] Chr14:24003501 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.910A>T (p.Ile304Leu) |
single nucleotide variant |
ZFHX2-related disorder [RCV003921868] |
Chr14:23534416 [GRCh38] Chr14:24003625 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.6381G>C (p.Gly2127=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003944690] |
Chr14:23523561 [GRCh38] Chr14:23992770 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.5679G>A (p.Glu1893=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003927397] |
Chr14:23524263 [GRCh38] Chr14:23993472 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.4092C>G (p.Leu1364=) |
single nucleotide variant |
not provided [RCV004546259] |
Chr14:23525850 [GRCh38] Chr14:23995059 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.387C>A (p.Ser129=) |
single nucleotide variant |
not provided [RCV004546347] |
Chr14:23534939 [GRCh38] Chr14:24004148 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1089G>A (p.Ser363=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003909564] |
Chr14:23534237 [GRCh38] Chr14:24003446 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3616C>T (p.Leu1206=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003952181] |
Chr14:23526326 [GRCh38] Chr14:23995535 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.5601G>A (p.Glu1867=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003981621] |
Chr14:23524341 [GRCh38] Chr14:23993550 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6613C>A (p.Pro2205Thr) |
single nucleotide variant |
not provided [RCV003887548] |
Chr14:23523329 [GRCh38] Chr14:23992538 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5565C>G (p.Pro1855=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003971434] |
Chr14:23524377 [GRCh38] Chr14:23993586 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.2070C>T (p.His690=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003949543] |
Chr14:23533056 [GRCh38] Chr14:24002265 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6930C>T (p.Ser2310=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003971639] |
Chr14:23522751 [GRCh38] Chr14:23991960 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6210C>A (p.Thr2070=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003924594] |
Chr14:23523732 [GRCh38] Chr14:23992941 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.3842C>G (p.Thr1281Ser) |
single nucleotide variant |
not provided [RCV003884195] |
Chr14:23526100 [GRCh38] Chr14:23995309 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5011G>A (p.Gly1671Ser) |
single nucleotide variant |
not provided [RCV003885033] |
Chr14:23524931 [GRCh38] Chr14:23994140 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.5859C>G (p.Gly1953=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003911739] |
Chr14:23524083 [GRCh38] Chr14:23993292 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.3243G>A (p.Pro1081=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003977177] |
Chr14:23526866 [GRCh38] Chr14:23996075 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.6400G>A (p.Gly2134Arg) |
single nucleotide variant |
not provided [RCV003884209] |
Chr14:23523542 [GRCh38] Chr14:23992751 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6503G>A (p.Arg2168His) |
single nucleotide variant |
ZFHX2-related disorder [RCV003972046] |
Chr14:23523439 [GRCh38] Chr14:23992648 [GRCh37] Chr14:14q11.2 |
benign |
NM_033400.3(ZFHX2):c.4194C>T (p.Pro1398=) |
single nucleotide variant |
ZFHX2-related disorder [RCV003922171] |
Chr14:23525748 [GRCh38] Chr14:23994957 [GRCh37] Chr14:14q11.2 |
benign |
NM_024328.6(THTPA):c.125C>T (p.Thr42Ile) |
single nucleotide variant |
not specified [RCV004467092] |
Chr14:23556882 [GRCh38] Chr14:24026091 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5227G>A (p.Glu1743Lys) |
single nucleotide variant |
not specified [RCV004483863] |
Chr14:23524715 [GRCh38] Chr14:23993924 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5366G>A (p.Arg1789Gln) |
single nucleotide variant |
not specified [RCV004483864] |
Chr14:23524576 [GRCh38] Chr14:23993785 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5396G>A (p.Ser1799Asn) |
single nucleotide variant |
not specified [RCV004483865] |
Chr14:23524546 [GRCh38] Chr14:23993755 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5402C>A (p.Pro1801His) |
single nucleotide variant |
not specified [RCV004483866] |
Chr14:23524540 [GRCh38] Chr14:23993749 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5428C>G (p.Leu1810Val) |
single nucleotide variant |
not specified [RCV004483867] |
Chr14:23524514 [GRCh38] Chr14:23993723 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5540G>A (p.Gly1847Glu) |
single nucleotide variant |
not specified [RCV004483868] |
Chr14:23524402 [GRCh38] Chr14:23993611 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2481C>G (p.Asp827Glu) |
single nucleotide variant |
not specified [RCV004483844] |
Chr14:23532645 [GRCh38] Chr14:24001854 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3133G>A (p.Val1045Ile) |
single nucleotide variant |
not specified [RCV004483845] |
Chr14:23527606 [GRCh38] Chr14:23996815 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3242C>T (p.Pro1081Leu) |
single nucleotide variant |
not specified [RCV004483846] |
Chr14:23526867 [GRCh38] Chr14:23996076 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3317T>C (p.Leu1106Pro) |
single nucleotide variant |
not specified [RCV004483847] |
Chr14:23526625 [GRCh38] Chr14:23995834 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3331G>T (p.Val1111Phe) |
single nucleotide variant |
not specified [RCV004483848] |
Chr14:23526611 [GRCh38] Chr14:23995820 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3343C>A (p.Pro1115Thr) |
single nucleotide variant |
not specified [RCV004483849] |
Chr14:23526599 [GRCh38] Chr14:23995808 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3428C>T (p.Pro1143Leu) |
single nucleotide variant |
not specified [RCV004483850] |
Chr14:23526514 [GRCh38] Chr14:23995723 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.3485C>A (p.Pro1162Gln) |
single nucleotide variant |
not specified [RCV004483851] |
Chr14:23526457 [GRCh38] Chr14:23995666 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3520C>T (p.Arg1174Trp) |
single nucleotide variant |
not specified [RCV004483852] |
Chr14:23526422 [GRCh38] Chr14:23995631 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4123G>A (p.Gly1375Arg) |
single nucleotide variant |
not specified [RCV004483853] |
Chr14:23525819 [GRCh38] Chr14:23995028 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4235G>A (p.Arg1412Gln) |
single nucleotide variant |
not specified [RCV004483854] |
Chr14:23525707 [GRCh38] Chr14:23994916 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4256G>T (p.Gly1419Val) |
single nucleotide variant |
not specified [RCV004483855] |
Chr14:23525686 [GRCh38] Chr14:23994895 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4409C>A (p.Pro1470Gln) |
single nucleotide variant |
not specified [RCV004483856] |
Chr14:23525533 [GRCh38] Chr14:23994742 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.451G>C (p.Glu151Gln) |
single nucleotide variant |
not specified [RCV004483857] |
Chr14:23534875 [GRCh38] Chr14:24004084 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4541G>A (p.Arg1514His) |
single nucleotide variant |
not specified [RCV004483858] |
Chr14:23525401 [GRCh38] Chr14:23994610 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.470T>C (p.Phe157Ser) |
single nucleotide variant |
not specified [RCV004483859] |
Chr14:23534856 [GRCh38] Chr14:24004065 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4786C>T (p.Arg1596Trp) |
single nucleotide variant |
not specified [RCV004483860] |
Chr14:23525156 [GRCh38] Chr14:23994365 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.484C>A (p.Pro162Thr) |
single nucleotide variant |
not specified [RCV004483861] |
Chr14:23534842 [GRCh38] Chr14:24004051 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5085C>G (p.Asp1695Glu) |
single nucleotide variant |
not specified [RCV004483862] |
Chr14:23524857 [GRCh38] Chr14:23994066 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5888C>A (p.Ala1963Glu) |
single nucleotide variant |
not specified [RCV004483869] |
Chr14:23524054 [GRCh38] Chr14:23993263 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5939T>C (p.Phe1980Ser) |
single nucleotide variant |
not specified [RCV004483871] |
Chr14:23524003 [GRCh38] Chr14:23993212 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6388G>T (p.Ala2130Ser) |
single nucleotide variant |
not specified [RCV004483872] |
Chr14:23523554 [GRCh38] Chr14:23992763 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6797C>T (p.Thr2266Ile) |
single nucleotide variant |
not specified [RCV004483873] |
Chr14:23522884 [GRCh38] Chr14:23992093 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6823C>T (p.Arg2275Cys) |
single nucleotide variant |
not specified [RCV004483874] |
Chr14:23522858 [GRCh38] Chr14:23992067 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.685G>A (p.Gly229Arg) |
single nucleotide variant |
not specified [RCV004483875] |
Chr14:23534641 [GRCh38] Chr14:24003850 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6872C>T (p.Ala2291Val) |
single nucleotide variant |
not specified [RCV004483877] |
Chr14:23522809 [GRCh38] Chr14:23992018 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6962G>A (p.Ser2321Asn) |
single nucleotide variant |
not specified [RCV004483878] |
Chr14:23522719 [GRCh38] Chr14:23991928 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7084T>A (p.Phe2362Ile) |
single nucleotide variant |
not specified [RCV004483879] |
Chr14:23522597 [GRCh38] Chr14:23991806 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7170G>T (p.Gln2390His) |
single nucleotide variant |
not specified [RCV004483880] |
Chr14:23522511 [GRCh38] Chr14:23991720 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7403C>T (p.Ala2468Val) |
single nucleotide variant |
not specified [RCV004483881] |
Chr14:23522278 [GRCh38] Chr14:23991487 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7424T>G (p.Phe2475Cys) |
single nucleotide variant |
not specified [RCV004483882] |
Chr14:23522257 [GRCh38] Chr14:23991466 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7540C>A (p.Leu2514Met) |
single nucleotide variant |
not specified [RCV004483883] |
Chr14:23522141 [GRCh38] Chr14:23991350 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7561C>T (p.Arg2521Cys) |
single nucleotide variant |
not specified [RCV004483884] |
Chr14:23522120 [GRCh38] Chr14:23991329 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7577C>T (p.Pro2526Leu) |
single nucleotide variant |
not specified [RCV004483885] |
Chr14:23522104 [GRCh38] Chr14:23991313 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7670C>T (p.Thr2557Met) |
single nucleotide variant |
not specified [RCV004483886] |
Chr14:23522011 [GRCh38] Chr14:23991220 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.892G>C (p.Ala298Pro) |
single nucleotide variant |
not specified [RCV004483887] |
Chr14:23534434 [GRCh38] Chr14:24003643 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1819G>A (p.Gly607Ser) |
single nucleotide variant |
not specified [RCV004686367] |
Chr14:23533507 [GRCh38] Chr14:24002716 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1339C>G (p.Arg447Gly) |
single nucleotide variant |
not specified [RCV004686377] |
Chr14:23533987 [GRCh38] Chr14:24003196 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4210G>C (p.Glu1404Gln) |
single nucleotide variant |
not specified [RCV004686382] |
Chr14:23525732 [GRCh38] Chr14:23994941 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1052C>T (p.Ala351Val) |
single nucleotide variant |
not specified [RCV004483833] |
Chr14:23534274 [GRCh38] Chr14:24003483 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1112G>A (p.Gly371Glu) |
single nucleotide variant |
not specified [RCV004483834] |
Chr14:23534214 [GRCh38] Chr14:24003423 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1288G>A (p.Ala430Thr) |
single nucleotide variant |
not specified [RCV004483835] |
Chr14:23534038 [GRCh38] Chr14:24003247 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1526G>A (p.Arg509His) |
single nucleotide variant |
not specified [RCV004483837] |
Chr14:23533800 [GRCh38] Chr14:24003009 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1745G>A (p.Arg582His) |
single nucleotide variant |
not specified [RCV004483838] |
Chr14:23533581 [GRCh38] Chr14:24002790 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.188C>T (p.Ser63Leu) |
single nucleotide variant |
not specified [RCV004483839] |
Chr14:23535138 [GRCh38] Chr14:24004347 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.1922G>A (p.Gly641Glu) |
single nucleotide variant |
not specified [RCV004483840] |
Chr14:23533404 [GRCh38] Chr14:24002613 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2008G>A (p.Val670Ile) |
single nucleotide variant |
not specified [RCV004483841] |
Chr14:23533318 [GRCh38] Chr14:24002527 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.250G>A (p.Ala84Thr) |
single nucleotide variant |
not specified [RCV004467093] |
Chr14:23557007 [GRCh38] Chr14:24026216 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.604C>T (p.Arg202Trp) |
single nucleotide variant |
not specified [RCV004467094] |
Chr14:23558751 [GRCh38] Chr14:24027960 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5028C>T (p.His1676=) |
single nucleotide variant |
not provided [RCV004575156] |
Chr14:23524914 [GRCh38] Chr14:23994123 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.4986C>T (p.Thr1662=) |
single nucleotide variant |
not specified [RCV004686378] |
Chr14:23524956 [GRCh38] Chr14:23994165 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_033400.3(ZFHX2):c.7058C>T (p.Ala2353Val) |
single nucleotide variant |
not specified [RCV004686383] |
Chr14:23522623 [GRCh38] Chr14:23991832 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4040C>G (p.Pro1347Arg) |
single nucleotide variant |
not specified [RCV004686365] |
Chr14:23525902 [GRCh38] Chr14:23995111 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3929G>A (p.Gly1310Asp) |
single nucleotide variant |
not specified [RCV004686369] |
Chr14:23526013 [GRCh38] Chr14:23995222 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.4990G>A (p.Gly1664Arg) |
single nucleotide variant |
not specified [RCV004686373] |
Chr14:23524952 [GRCh38] Chr14:23994161 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6899C>G (p.Pro2300Arg) |
single nucleotide variant |
not specified [RCV004686375] |
Chr14:23522782 [GRCh38] Chr14:23991991 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2027A>C (p.Lys676Thr) |
single nucleotide variant |
not specified [RCV004686380] |
Chr14:23533299 [GRCh38] Chr14:24002508 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.3023A>C (p.Lys1008Thr) |
single nucleotide variant |
not specified [RCV004686381] |
Chr14:23527716 [GRCh38] Chr14:23996925 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.1258C>T (p.Arg420Cys) |
single nucleotide variant |
not specified [RCV004686371] |
Chr14:23534068 [GRCh38] Chr14:24003277 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2866G>A (p.Glu956Lys) |
single nucleotide variant |
not specified [RCV004686372] |
Chr14:23530129 [GRCh38] Chr14:23999338 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5406C>T (p.Pro1802=) |
single nucleotide variant |
not provided [RCV004585451] |
Chr14:23524536 [GRCh38] Chr14:23993745 [GRCh37] Chr14:14q11.2 |
likely benign |
NM_024328.6(THTPA):c.540C>A (p.Ser180Arg) |
single nucleotide variant |
not specified [RCV004676878] |
Chr14:23557297 [GRCh38] Chr14:24026506 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.7550C>T (p.Ser2517Leu) |
single nucleotide variant |
not specified [RCV004686370] |
Chr14:23522131 [GRCh38] Chr14:23991340 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2806G>T (p.Ala936Ser) |
single nucleotide variant |
not specified [RCV004686374] |
Chr14:23530189 [GRCh38] Chr14:23999398 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5582G>A (p.Arg1861His) |
single nucleotide variant |
not specified [RCV004686379] |
Chr14:23524360 [GRCh38] Chr14:23993569 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.161T>A (p.Leu54Gln) |
single nucleotide variant |
not specified [RCV004668647] |
Chr14:23556918 [GRCh38] Chr14:24026127 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.451T>G (p.Phe151Val) |
single nucleotide variant |
not specified [RCV004668648] |
Chr14:23557208 [GRCh38] Chr14:24026417 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_024328.6(THTPA):c.539G>A (p.Ser180Asn) |
single nucleotide variant |
not specified [RCV004668649] |
Chr14:23557296 [GRCh38] Chr14:24026505 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.6317A>G (p.Lys2106Arg) |
single nucleotide variant |
not specified [RCV004686366] |
Chr14:23523625 [GRCh38] Chr14:23992834 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2684G>A (p.Arg895His) |
single nucleotide variant |
not specified [RCV004686368] |
Chr14:23531597 [GRCh38] Chr14:24000806 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.5650C>T (p.Arg1884Cys) |
single nucleotide variant |
not specified [RCV004686376] |
Chr14:23524292 [GRCh38] Chr14:23993501 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2210A>C (p.Tyr737Ser) |
single nucleotide variant |
not specified [RCV004483843] |
Chr14:23532916 [GRCh38] Chr14:24002125 [GRCh37] Chr14:14q11.2 |
uncertain significance |
NM_033400.3(ZFHX2):c.2158C>T (p.Arg720Cys) |
single nucleotide variant |
not specified [RCV004483842] |
Chr14:23532968 [GRCh38] Chr14:24002177 [GRCh37] Chr14:14q11.2 |
uncertain significance |