8557[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1283322	NC_000017.11:g.39665022A>G	TCAP	Single nucleotide variant	not provided	GBenign
Select item 672043	NM_003673.3(TCAP):c.-178G>T	TCAP	Single nucleotide variant	not provided	GBenign
Select item 510785	NM_003673.3(TCAP):c.-18A>G	TCAP	Single nucleotide variant	not specified	GLikely benign
Select item 202101	NM_003673.4(TCAP):c.-13A>G	TCAP	Single nucleotide variant	Autosomal recessive limb-girdle muscular dystrophy type 2G +2 more	GLikely benign
Select item 587470	NM_003673.4(TCAP):c.1A>G (p.Met1Val)	TCAP (M1V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely pathogenic
Select item 1180772	NM_003673.4(TCAP):c.14_15del (p.Glu5fs)	TCAP (E5fs)	Microsatellite (frameshift variant)	Abnormality of the musculature	GLikely pathogenic
Select item 2932566	NM_003673.4(TCAP):c.14A>G (p.Glu5Gly)	TCAP (E5G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 44704	NM_003673.4(TCAP):c.16C>A (p.Leu6Met)	TCAP (L6M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2625120	NM_003673.4(TCAP):c.19A>G (p.Ser7Gly)	TCAP (S7G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1436557	NM_003673.4(TCAP):c.22T>C (p.Cys8Arg)	TCAP (C8R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 650939	NM_003673.4(TCAP):c.22T>A (p.Cys8Ser)	TCAP (C8S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1022736	NM_003673.4(TCAP):c.23G>T (p.Cys8Phe)	TCAP (C8F)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 448649	NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)	TCAP (E12fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 464946	NM_003673.4(TCAP):c.24C>T (p.Cys8=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 217014	NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)	TCAP (S11*)	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
Select item 3223539	NM_003673.4(TCAP):c.25G>T (p.Glu9Ter)	TCAP (E9*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 2146004	NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)	TCAP	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 522598	NM_003673.4(TCAP):c.34dup (p.Glu12fs)	TCAP (E12fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 25 +3 more	GPathogenic/Likely pathogenic
Select item 177939	NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)	TCAP (S11L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +6 more	GConflicting classifications of pathogenicity
Select item 140582	NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)	TCAP (S11*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
Select item 1731043	NM_003673.4(TCAP):c.33G>C (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1459213	NM_003673.4(TCAP):c.34del (p.Glu12fs)	TCAP (E12fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 1136230	NM_003673.4(TCAP):c.33G>T (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 386567	NM_003673.4(TCAP):c.33G>A (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 44707	NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)	TCAP (E13del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2941072	NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)	TCAP (E12Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1562791	NM_003673.4(TCAP):c.36G>A (p.Glu12=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1500330	NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)	TCAP (E13K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 290308	NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer)	TCAP	Duplication (nonsense)	Primary familial hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 3175036	NM_003673.4(TCAP):c.43T>A (p.Cys15Ser)	TCAP (C15S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2065429	NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)	TCAP	Microsatellite (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 1353178	NM_003673.4(TCAP):c.46G>A (p.Glu16Lys)	TCAP (E16K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2948047	NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)	TCAP (R18fs)	Microsatellite (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 222830	NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)	TCAP (R17C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2202667	NM_003673.4(TCAP):c.50G>A (p.Arg17His)	TCAP (R17H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 862031	NM_003673.4(TCAP):c.50G>C (p.Arg17Pro)	TCAP (R17P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +3 more	GUncertain significance
Select item 533540	NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)	TCAP (R17P)	Indel (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2562754	NM_003673.4(TCAP):c.51C>T (p.Arg17=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 263956	NM_003673.4(TCAP):c.52C>T (p.Arg18Trp)	TCAP (R18W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 239548	NM_003673.4(TCAP):c.53G>A (p.Arg18Gln)	TCAP (R18Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 995305	NM_003673.4(TCAP):c.54G>C (p.Arg18=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1014787	NM_003673.4(TCAP):c.58G>T (p.Ala20Ser)	TCAP (A20S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2927814	NM_003673.4(TCAP):c.62_64del (p.Phe21del)	TCAP (F21del)	Deletion (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 44714	NM_003673.4(TCAP):c.60C>G (p.Ala20=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 290645	NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)	TCAP (W22*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 838126	NM_003673.4(TCAP):c.70G>C (p.Glu24Gln)	TCAP (E24Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 813977	NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)	TCAP (W25*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 25 +2 more	GPathogenic/Likely pathogenic
Select item 2937322	NM_003673.4(TCAP):c.78G>A (p.Lys26=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1762818	NM_003673.4(TCAP):c.82C>T (p.Leu28=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1597314	NM_003673.4(TCAP):c.87A>C (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1142258	NM_003673.4(TCAP):c.87A>G (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 978321	NM_003673.4(TCAP):c.88C>T (p.Leu30=)	TCAP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 853619	NM_003673.4(TCAP):c.88C>G (p.Leu30Val)	TCAP (L30V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 446463	NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	TCAP (S31fs)	Deletion (frameshift variant)	Abnormality of the musculature +1 more	GPathogenic/Likely pathogenic
Select item 520453	NM_003673.4(TCAP):c.92C>G (p.Ser31Cys)	TCAP (S31C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2940721	NM_003673.4(TCAP):c.93C>A (p.Ser31=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1767156	NM_003673.4(TCAP):c.94A>T (p.Thr32Ser)	TCAP (T32S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 282451	NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)	TCAP (R33W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 1370797	NM_003673.4(TCAP):c.98G>T (p.Arg33Leu)	TCAP (R33L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 426834	NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)	TCAP (R33Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +4 more	GUncertain significance
Select item 1129559	NM_003673.4(TCAP):c.102C>G (p.Pro34=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 416208	NM_003673.4(TCAP):c.102C>T (p.Pro34=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 286261	NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)	TCAP (E35*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2199081	NM_003673.4(TCAP):c.105G>A (p.Glu35=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2625121	NM_003673.4(TCAP):c.107A>G (p.Glu36Gly)	TCAP (E36G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562755	NM_003673.4(TCAP):c.110_110+1dup	TCAP	Duplication (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 758390	NM_003673.4(TCAP):c.108G>A (p.Glu36=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 5526	NM_003673.4(TCAP):c.110_110+1del	TCAP	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 25 +3 more	GPathogenic
Select item 1687576	NM_003673.4(TCAP):c.110+1G>A	TCAP	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
Select item 2023376	NM_003673.4(TCAP):c.110+2T>C	TCAP	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2928100	NM_003673.4(TCAP):c.110+5G>C	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1055526	NM_003673.4(TCAP):c.110+5G>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GPathogenic
Select item 202113	NM_003673.4(TCAP):c.110+5G>T	TCAP	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more	GLikely pathogenic
Select item 2011759	NM_003673.4(TCAP):c.110+6T>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 259121	NM_003673.4(TCAP):c.110+7G>A	TCAP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2927567	NM_003673.4(TCAP):c.110+8T>G	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1003581	NM_003673.4(TCAP):c.110+10G>A	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1959038	NM_003673.4(TCAP):c.110+13C>A	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1997878	NM_003673.4(TCAP):c.110+15G>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1522360	NM_003673.4(TCAP):c.110+16C>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1550688	NM_003673.4(TCAP):c.110+18A>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 259120	NM_003673.4(TCAP):c.110+48C>T	TCAP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 44702	NM_003673.4(TCAP):c.111-15dup	TCAP	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 383071	NM_003673.4(TCAP):c.111-17C>T	TCAP	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1661075	NM_003673.4(TCAP):c.111-16C>T	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1174904	NM_003673.4(TCAP):c.111-16C>G	TCAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2930460	NM_003673.4(TCAP):c.111-15C>G	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2187022	NM_003673.4(TCAP):c.111-15C>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2156216	NM_003673.4(TCAP):c.111-14T>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 323046	NM_003673.4(TCAP):c.111-13C>T	TCAP	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more	GUncertain significance
Select item 323045	NM_003673.4(TCAP):c.111-13C>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2581215	NM_003673.4(TCAP):c.111-11C>T	TCAP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2036224	NM_003673.4(TCAP):c.111C>G (p.Gly37=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 202108	NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)	TCAP (C38F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 464943	NM_003673.4(TCAP):c.116C>G (p.Ser39Cys)	TCAP (S39C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1585506	NM_003673.4(TCAP):c.117C>T (p.Ser39=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

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