12724[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 3032807	NM_000638.4(VTN):c.*6dup	VTN	Duplication (3 prime UTR variant)	VTN-related disorder	GLikely benign
Select item 730717	NM_000638.4(VTN):c.1395C>T (p.Ile465=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3332391	NM_000638.4(VTN):c.1393A>G (p.Ile465Val)	VTN (I465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634667	NM_000638.4(VTN):c.1382A>G (p.Tyr461Cys)	VTN (Y461C)	Single nucleotide variant (missense variant)	VTN-related disorder	GUncertain significance
Select item 2241175	NM_000638.4(VTN):c.1375C>T (p.Pro459Ser)	VTN (P459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549736	NM_000638.4(VTN):c.1366A>G (p.Thr456Ala)	VTN (T456A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310158	NM_000638.4(VTN):c.1351A>T (p.Thr451Ser)	VTN (T451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332392	NM_000638.4(VTN):c.1349G>T (p.Arg450Leu)	VTN (R450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059030	NM_000638.4(VTN):c.1344T>C (p.Asn448=)	VTN	Single nucleotide variant (synonymous variant)	VTN-related disorder	GBenign
Select item 2549734	NM_000638.4(VTN):c.1314C>A (p.Phe438Leu)	VTN (F438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236927	NM_000638.4(VTN):c.1267G>A (p.Asp423Asn)	VTN (D423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189208	NM_000638.4(VTN):c.1262G>A (p.Arg421Lys)	VTN (R421K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059155	NM_000638.4(VTN):c.1199C>T (p.Thr400Met)	VTN (T400M)	Single nucleotide variant (missense variant)	VTN-related disorder	GBenign
Select item 2307871	NM_000638.4(VTN):c.1196C>T (p.Ala399Val)	VTN (A399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272030	NM_000638.4(VTN):c.1195G>A (p.Ala399Thr)	VTN (A399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459157	NM_000638.4(VTN):c.1183C>T (p.Arg395Trp)	VTN (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771493	NM_000638.4(VTN):c.1170C>T (p.Asn390=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2355344	NM_000638.4(VTN):c.1166G>A (p.Arg389His)	VTN (R389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279674	NM_000638.4(VTN):c.1157G>A (p.Ser386Asn)	VTN (S386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332393	NM_000638.4(VTN):c.1124A>G (p.Asn375Ser)	VTN (N375S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459359	NM_000638.4(VTN):c.1081C>G (p.Pro361Ala)	VTN (P361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536145	NM_000638.4(VTN):c.1050G>T (p.Met350Ile)	VTN (M350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301150	NM_000638.4(VTN):c.1022G>A (p.Gly341Asp)	VTN (G341D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759659	NM_000638.4(VTN):c.1020C>T (p.His340=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526402	NM_000638.4(VTN):c.1016G>C (p.Trp339Ser)	VTN (W339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591095	NM_000638.4(VTN):c.1009C>T (p.Arg337Trp)	VTN (R337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209054	NM_000638.4(VTN):c.1006A>G (p.Ser336Gly)	VTN (S336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032015	NM_000638.4(VTN):c.980-4A>G	VTN	Single nucleotide variant (intron variant)	VTN-related disorder	GLikely benign
Select item 2407670	NM_000638.4(VTN):c.972A>T (p.Arg324Ser)	VTN (R324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221183	NM_000638.4(VTN):c.948C>G (p.Ile316Met)	VTN (I316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629099	NM_000638.4(VTN):c.896C>T (p.Ser299Leu)	VTN (S299L)	Single nucleotide variant (missense variant)	VTN-related disorder	GUncertain significance
Select item 782607	NM_000638.4(VTN):c.891C>T (p.Ser297=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2605194	NM_000638.4(VTN):c.832C>G (p.Gln278Glu)	VTN (Q278E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059434	NM_000638.4(VTN):c.827-10T>C	VTN	Single nucleotide variant (intron variant)	VTN-related disorder	GBenign
Select item 2601997	NM_000638.4(VTN):c.823A>C (p.Lys275Gln)	VTN (K275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041993	NM_000638.4(VTN):c.803G>A (p.Arg268Gln)	VTN (R268Q)	Single nucleotide variant (missense variant)	VTN-related disorder	GBenign
Select item 2303175	NM_000638.4(VTN):c.802C>G (p.Arg268Gly)	VTN (R268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189212	NM_000638.4(VTN):c.796A>T (p.Ser266Cys)	VTN (S266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459549	NM_000638.4(VTN):c.686G>A (p.Arg229His)	VTN (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557602	NM_000638.4(VTN):c.676C>G (p.Gln226Glu)	VTN (Q226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330206	NM_000638.4(VTN):c.641A>T (p.Asn214Ile)	VTN (N214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224027	NM_000638.4(VTN):c.634C>T (p.Arg212Cys)	VTN (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205668	NM_000638.4(VTN):c.625G>A (p.Ala209Thr)	VTN (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383389	NM_000638.4(VTN):c.600G>C (p.Trp200Cys)	VTN (W200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353712	NM_000638.4(VTN):c.535T>C (p.Tyr179His)	VTN (Y179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056851	NM_000638.4(VTN):c.507C>T (p.Asn169=)	VTN	Single nucleotide variant (synonymous variant)	VTN-related disorder	GBenign
Select item 2610845	NM_000638.4(VTN):c.494C>A (p.Thr165Asn)	VTN (T165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189210	NM_000638.4(VTN):c.487G>A (p.Ala163Thr)	VTN (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737400	NM_000638.4(VTN):c.486C>T (p.Asp162=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764690	NM_000638.4(VTN):c.444G>A (p.Gln148=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723634	NM_000638.4(VTN):c.377A>T (p.Glu126Val)	VTN (E126V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2594203	NM_000638.4(VTN):c.371C>T (p.Ala124Val)	VTN (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318267	NM_000638.4(VTN):c.293T>C (p.Leu98Pro)	VTN (L98P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520229	NM_000638.4(VTN):c.289T>C (p.Ser97Pro)	VTN (S97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189209	NM_000638.4(VTN):c.191G>A (p.Arg64His)	VTN (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761551	NM_000638.4(VTN):c.185-5T>C	VTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2470644	NM_000638.4(VTN):c.144G>C (p.Gln48His)	VTN (Q48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736594	NM_000638.4(VTN):c.123C>T (p.Asp41=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739029	NM_000638.4(VTN):c.99C>T (p.Asn33=)	VTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055071	NM_000638.4(VTN):c.64+9G>T	VTN	Single nucleotide variant (intron variant)	VTN-related disorder	GLikely benign
Select item 3189211	NM_000638.4(VTN):c.61C>G (p.Gln21Glu)	VTN (Q21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 72