157680[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 5753

<< First< Prev

Page of 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 361034	NM_152564.5(VPS13B):c.-30T>A	LOC113783876, VPS13B	Single nucleotide variant (5 prime UTR variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1803855	NM_152564.5(VPS13B):c.-30+5G>A	LOC113783876, VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GUncertain significance
Select item 908283	NM_152564.5(VPS13B):c.-30+6C>G	LOC113783876, VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GUncertain significance
Select item 584153	NC_000008.10:g.(?_100025997)_(100133735_?)dup	LOC130000825, VPS13B	Duplication	Cohen syndrome	GUncertain significance
Select item 1798643	NM_152564.5(VPS13B):c.-2A>G	VPS13B	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2029081	NM_152564.5(VPS13B):c.1A>T (p.Met1Leu)	VPS13B (M1L)	Single nucleotide variant (missense variant +2 more)	Cohen syndrome	GUncertain significance
Select item 402220	NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)	VPS13B (M1I)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2180780	NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln)	VPS13B (L2Q)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1112559	NM_152564.5(VPS13B):c.6G>T (p.Leu2=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome +1 more	GLikely benign
Select item 2912646	NM_152564.5(VPS13B):c.9G>A (p.Glu3=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2013626	NM_152564.5(VPS13B):c.18A>T (p.Val6=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	VPS13B-related condition +1 more	GLikely benign
Select item 1104508	NM_152564.5(VPS13B):c.18A>C (p.Val6=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 729770	NM_152564.5(VPS13B):c.18A>G (p.Val6=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 969707	NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser)	VPS13B (T7S)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome +1 more	GUncertain significance
Select item 2086154	NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala)	VPS13B (P8A)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 56652	NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs)	VPS13B (P8fs)	Indel (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 2006593	NM_152564.5(VPS13B):c.31A>T (p.Met11Leu)	VPS13B (M11L)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2848749	NM_152564.5(VPS13B):c.36C>T (p.Ser12=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 437252	NM_152564.5(VPS13B):c.37T>C (p.Tyr13His)	VPS13B (Y13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 195336	NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)	VPS13B (K19R)	Single nucleotide variant (missense variant +1 more)	VPS13B-related condition +3 more	GUncertain significance
Select item 1438146	NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys)	VPS13B (N20K)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1130880	NM_152564.5(VPS13B):c.63A>G (p.Leu21=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1153924	NM_152564.5(VPS13B):c.69G>A (p.Pro23=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1112932	NM_152564.5(VPS13B):c.69G>C (p.Pro23=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2230109	NM_152564.5(VPS13B):c.73G>A (p.Asp25Asn)	VPS13B (D25N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 971963	NM_152564.5(VPS13B):c.74A>T (p.Asp25Val)	VPS13B (D25V)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1991829	NM_152564.5(VPS13B):c.75T>C (p.Asp25=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 374534	NM_152564.5(VPS13B):c.78A>G (p.Leu26=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 977872	NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)	VPS13B (Q27*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 813329	NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg)	VPS13B (Q27R)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 1652420	NM_152564.5(VPS13B):c.87A>G (p.Ser29=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 589574	NM_152564.5(VPS13B):c.90A>G (p.Leu30=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2831481	NM_152564.5(VPS13B):c.95del (p.Gly32fs)	VPS13B (G32fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GPathogenic
Select item 1592651	NM_152564.5(VPS13B):c.99A>G (p.Gly33=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1714464	NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu)	VPS13B (D34E)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1658298	NM_152564.5(VPS13B):c.105G>T (p.Val35=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1598405	NM_152564.5(VPS13B):c.105G>A (p.Val35=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1468163	NM_152564.5(VPS13B):c.107T>A (p.Val36Glu)	VPS13B (V36E)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 551601	NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)	VPS13B (V36fs)	Indel (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 1392189	NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys)	VPS13B (S38C)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 853031	NM_152564.5(VPS13B):c.114C>T (p.Ser38=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2697690	NM_152564.5(VPS13B):c.117G>A (p.Lys39=)	VPS13B	Single nucleotide variant (non-coding transcript variant +1 more)	Cohen syndrome	GLikely benign
Select item 1915993	NM_152564.5(VPS13B):c.120C>G (p.Leu40=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1085845	NM_152564.5(VPS13B):c.120C>A (p.Leu40=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1897621	NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln)	VPS13B (E41Q)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2167120	NM_152564.5(VPS13B):c.123G>A (p.Glu41=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1985671	NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln)	VPS13B (K43Q)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2164351	NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr)	VPS13B (D45Y)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1037359	NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn)	VPS13B (D45N)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1624416	NM_152564.5(VPS13B):c.138G>A (p.Val46=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1571857	NM_152564.5(VPS13B):c.139C>T (p.Leu47=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1086196	NM_152564.5(VPS13B):c.141G>C (p.Leu47=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2839485	NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)	VPS13B (E48*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 1382786	NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter)	VPS13B (Q49*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 371129	NM_152564.5(VPS13B):c.147+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 1025230	NM_152564.5(VPS13B):c.147+3A>G	VPS13B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 752068	NM_152564.5(VPS13B):c.147+8_147+15del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 2172312	NM_152564.5(VPS13B):c.147+13_147+22del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 2817517	NM_152564.5(VPS13B):c.147+18C>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2919170	NM_152564.5(VPS13B):c.147+19A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2742708	NM_152564.5(VPS13B):c.147+19_147+20del	VPS13B	Deletion (intron variant)	Cohen syndrome	GLikely benign
Select item 1255103	NM_152564.5(VPS13B):c.147+112T>C	VPS13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065680	NM_152564.5(VPS13B):c.148-17A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GUncertain significance
Select item 2770533	NM_152564.5(VPS13B):c.148-11del	VPS13B	Deletion (intron variant)	Cohen syndrome	GBenign
Select item 2012370	NM_152564.5(VPS13B):c.148-10G>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 1157153	NM_152564.5(VPS13B):c.148-10G>A	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 2133101	NM_152564.5(VPS13B):c.148-5T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 1484609	NM_152564.5(VPS13B):c.148-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 934208	NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala)	VPS13B (E50A)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1568411	NM_152564.5(VPS13B):c.150A>G (p.Glu50=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2797794	NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)	VPS13B (K52*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 626046	NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser)	VPS13B (P54S)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2859326	NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)	VPS13B (F55fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GPathogenic
Select item 1413750	NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu)	VPS13B (P54L)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 437233	NM_152564.5(VPS13B):c.162A>G (p.Pro54=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1574474	NM_152564.5(VPS13B):c.171T>C (p.Phe57=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1385276	NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser)	VPS13B (L58S)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 1397131	NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe)	VPS13B (L58F)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2694670	NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)	VPS13B (G60*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 2858736	NM_152564.5(VPS13B):c.186T>C (p.Ile62=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1498366	NM_152564.5(VPS13B):c.186T>G (p.Ile62Met)	VPS13B (I62M)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2902334	NM_152564.5(VPS13B):c.192A>G (p.Glu64=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 1613135	NM_152564.5(VPS13B):c.193T>C (p.Leu65=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome +1 more	GLikely benign
Select item 1060582	NM_152564.5(VPS13B):c.203A>G (p.His68Arg)	VPS13B (H68R)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 2781439	NM_152564.5(VPS13B):c.204T>C (p.His68=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 2852905	NM_152564.5(VPS13B):c.207A>G (p.Val69=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign

<< First< Prev

Page of 58