PDSS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 59666	GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3	ABI1, ANKRD26 +38 more	Copy number gain	See cases	GPathogenic
Select item 1238860	NC_000010.11:g.26697393C>G	PDSS1	Single nucleotide variant	not provided	GBenign
Select item 1182489	NC_000010.11:g.26697394T>C	PDSS1	Single nucleotide variant	not provided	GBenign
Select item 1269454	NC_000010.11:g.26697449T>C	PDSS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 138686	NM_014317.4(PDSS1):c.-29C>T	PDSS1	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 511819	NM_014317.4(PDSS1):c.-24delT	PDSS1	Deletion	not specified	GLikely benign
Select item 1878854	NM_014317.5(PDSS1):c.18G>A (p.Trp6Ter)	PDSS1 (W6*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2384655	NM_014317.5(PDSS1):c.34T>G (p.Cys12Gly)	PDSS1 (C12G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2025123	NM_014317.5(PDSS1):c.34T>C (p.Cys12Arg)	PDSS1 (C12R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2317406	NM_014317.5(PDSS1):c.35G>A (p.Cys12Tyr)	PDSS1 (C12Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1899554	NM_014317.5(PDSS1):c.41G>C (p.Trp14Ser)	PDSS1 (W14S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1206944	NM_014317.5(PDSS1):c.42G>C (p.Trp14Cys)	PDSS1 (W14C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706980	NM_014317.5(PDSS1):c.47C>T (p.Pro16Leu)	PDSS1 (P16L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 299691	NM_014317.5(PDSS1):c.51G>A (p.Ala17=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1504388	NM_014317.5(PDSS1):c.53C>G (p.Ala18Gly)	PDSS1 (A18G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2257069	NM_014317.5(PDSS1):c.56G>A (p.Arg19Gln)	PDSS1 (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3000831	NM_014317.5(PDSS1):c.60C>T (p.Ser20=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991307	NM_014317.5(PDSS1):c.69C>T (p.Pro23=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640367	NM_014317.5(PDSS1):c.69C>G (p.Pro23=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1364494	NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg)	PDSS1 (G24R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 214980	NM_014317.5(PDSS1):c.74C>T (p.Ser25Phe)	PDSS1 (S25F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1335035	NM_014317.5(PDSS1):c.77C>T (p.Pro26Leu)	PDSS1 (P26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996177	NM_014317.5(PDSS1):c.78C>A (p.Pro26=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941424	NM_014317.5(PDSS1):c.78C>G (p.Pro26=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924613	NM_014317.5(PDSS1):c.82_83delinsGC (p.Arg28Ala)	PDSS1 (R28A)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1957611	NM_014317.5(PDSS1):c.83G>A (p.Arg28His)	PDSS1 (R28H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 299692	NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu)	PDSS1 (R28L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1687674	NM_014317.5(PDSS1):c.89G>C (p.Gly30Ala)	PDSS1 (G30A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 138687	NM_014317.5(PDSS1):c.89G>T (p.Gly30Val)	PDSS1 (G30V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2229045	NM_014317.5(PDSS1):c.94T>G (p.Leu32Val)	PDSS1 (L32V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1033284	NM_014317.5(PDSS1):c.94T>A (p.Leu32Met)	PDSS1 (L32M)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299693	NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg)	PDSS1 (G33R)	Single nucleotide variant (missense variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 2111945	NM_014317.5(PDSS1):c.108_127dup (p.Gln43fs)	PDSS1 (Q43fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1930510	NM_014317.5(PDSS1):c.104_112del (p.Ser35_Ala38delinsThr)	PDSS1	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1933707	NM_014317.5(PDSS1):c.113C>T (p.Ala38Val)	PDSS1 (A38V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1668496	NM_014317.5(PDSS1):c.114C>G (p.Ala38=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914323	NM_014317.5(PDSS1):c.120C>T (p.Val40=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937637	NM_014317.5(PDSS1):c.124G>A (p.Ala42Thr)	PDSS1 (A42T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918402	NM_014317.5(PDSS1):c.129+5G>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 299694	NM_014317.5(PDSS1):c.129+7T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 3023165	NM_014317.5(PDSS1):c.129+9G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661820	NM_014317.5(PDSS1):c.129+15C>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917369	NM_014317.5(PDSS1):c.129+20G>T	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197543	NM_014317.5(PDSS1):c.129+113G>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669538	NM_014317.5(PDSS1):c.129+163T>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673229	NM_014317.5(PDSS1):c.129+233C>T	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272477	NM_014317.5(PDSS1):c.129+255del	PDSS1	Deletion (intron variant)	not provided	GBenign
Select item 669539	NM_014317.5(PDSS1):c.129+291G>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671582	NM_014317.5(PDSS1):c.130-242T>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224945	NM_014317.5(PDSS1):c.130-54A>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258603	NM_014317.5(PDSS1):c.130-46T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1236657	NM_014317.5(PDSS1):c.130-23del	PDSS1	Deletion (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign
Select item 1639952	NM_014317.5(PDSS1):c.130-18T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GLikely benign
Select item 299695	NM_014317.5(PDSS1):c.130-10G>T	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2022334	NM_014317.5(PDSS1):c.130-9A>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956105	NM_014317.5(PDSS1):c.139C>A (p.Arg47=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214979	NM_014317.5(PDSS1):c.139C>T (p.Arg47Trp)	PDSS1 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1398351	NM_014317.5(PDSS1):c.140G>A (p.Arg47Gln)	PDSS1 (R47Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932663	NM_014317.5(PDSS1):c.154T>C (p.Leu52=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004162	NM_014317.5(PDSS1):c.159T>C (p.Ser53=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1975660	NM_014317.5(PDSS1):c.162+4A>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 138685	NM_014317.5(PDSS1):c.162+13A>G	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +2 more	GBenign
Select item 1544089	NM_014317.5(PDSS1):c.162+15T>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257771	NM_014317.5(PDSS1):c.162+56G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293870	NM_014317.5(PDSS1):c.162+64T>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217763	NM_014317.5(PDSS1):c.163-252G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263564	NM_014317.5(PDSS1):c.163-239del	PDSS1	Deletion (intron variant)	not provided	GBenign
Select item 683440	NM_014317.5(PDSS1):c.163-216T>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880380	NM_014317.5(PDSS1):c.163-10del	PDSS1	Deletion (intron variant)	not provided	GBenign
Select item 299696	NM_014317.5(PDSS1):c.163-12T>C	PDSS1	Single nucleotide variant (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214982	NM_014317.5(PDSS1):c.163-5del	PDSS1	Deletion (intron variant)	Coenzyme Q10 deficiency +3 more	GBenign/Likely benign
Select item 2020854	NM_014317.5(PDSS1):c.163-4A>G	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631559	NM_014317.5(PDSS1):c.168C>G (p.Pro56=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929581	NM_014317.5(PDSS1):c.170A>G (p.Tyr57Cys)	PDSS1 (Y57C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500794	NM_014317.5(PDSS1):c.173_174insA (p.Ile58_Asn59insTer)	PDSS1	Insertion (frameshift variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GLikely pathogenic
Select item 2418146	NM_014317.5(PDSS1):c.188A>C (p.His63Pro)	PDSS1 (H63P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1922520	NM_014317.5(PDSS1):c.210T>C (p.Asn70=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632134	NM_014317.5(PDSS1):c.215_221del (p.Cys72fs)	PDSS1 (C72fs)	Deletion (frameshift variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 383622	NM_014317.5(PDSS1):c.218G>A (p.Arg73His)	PDSS1 (R73H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2852656	NM_014317.5(PDSS1):c.225A>G (p.Ser75=)	PDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1990004	NM_014317.5(PDSS1):c.226C>T (p.Arg76Trp)	PDSS1 (R76W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1658894	NM_014317.5(PDSS1):c.227+10C>T	PDSS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1247971	NM_014317.5(PDSS1):c.227+55G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671640	NM_014317.5(PDSS1):c.227+58G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291368	NM_014317.5(PDSS1):c.227+67A>T	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178759	NM_014317.5(PDSS1):c.227+68T>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269713	NM_014317.5(PDSS1):c.227+169T>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671583	NM_014317.5(PDSS1):c.228-260C>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671584	NM_014317.5(PDSS1):c.228-254G>A	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179551	NM_014317.5(PDSS1):c.228-65A>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2980681	NM_014317.5(PDSS1):c.228-8T>C	PDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055005	NM_014317.5(PDSS1):c.228-3_228dup	PDSS1	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 1901671	NM_014317.5(PDSS1):c.228G>C (p.Arg76=)	PDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2019202	NM_014317.5(PDSS1):c.237C>T (p.His79=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 299697	NM_014317.5(PDSS1):c.243C>T (p.Thr81=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2663483	NM_014317.5(PDSS1):c.248A>G (p.Asp83Gly)	PDSS1 (D83G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694025	NM_014317.5(PDSS1):c.249C>G (p.Asp83Glu)	PDSS1 (D83E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1433998	NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp)	PDSS1 (E90D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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