11205[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 735857	NM_138473.3(SP1):c.8-10A>G	SP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3167839	NM_138473.3(SP1):c.74A>G (p.Asn25Ser)	SP1 (N18S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321673	NM_138473.3(SP1):c.83A>C (p.Asn28Thr)	SP1 (N21T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321676	NM_138473.3(SP1):c.144C>G (p.Ser48Arg)	SP1 (S48R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710019	NM_138473.3(SP1):c.243C>G (p.Ser81=)	LOC130007983, SP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3167836	NM_138473.3(SP1):c.245A>G (p.Gln82Arg)	LOC130007983, SP1 (Q75R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468040	NM_138473.3(SP1):c.268A>G (p.Thr90Ala)	LOC130007983, SP1 (T83A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167837	NM_138473.3(SP1):c.269C>T (p.Thr90Ile)	LOC130007983, SP1 (T83I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379606	NM_138473.3(SP1):c.298C>T (p.Leu100Phe)	LOC130007983, SP1 (L100F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231431	NM_138473.3(SP1):c.361A>G (p.Lys121Glu)	LOC130007983, SP1 (K121E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617800	NM_138473.3(SP1):c.376A>G (p.Ser126Gly)	LOC130007983, SP1 (S119G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321674	NM_138473.3(SP1):c.383C>T (p.Thr128Ile)	LOC130007983, SP1 (T80I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167838	NM_138473.3(SP1):c.440A>G (p.Tyr147Cys)	SP1 (Y140C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609962	NM_138473.3(SP1):c.512T>C (p.Ile171Thr)	SP1 (I171T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613773	NM_138473.3(SP1):c.625G>C (p.Gly209Arg)	SP1 (G161R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335768	NM_138473.3(SP1):c.680C>G (p.Ala227Gly)	SP1 (A220G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321672	NM_138473.3(SP1):c.682A>G (p.Met228Val)	SP1 (M228V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539608	NM_138473.3(SP1):c.823G>C (p.Ala275Pro)	SP1 (A275P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595209	NM_138473.3(SP1):c.893C>G (p.Pro298Arg)	SP1 (P291R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342938	NM_138473.3(SP1):c.942A>T (p.Gln314His)	SP1 (Q266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745328	NM_138473.3(SP1):c.957C>G (p.Ser319=)	SP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304305	NM_138473.3(SP1):c.968A>G (p.Asn323Ser)	SP1 (N316S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229292	NM_138473.3(SP1):c.977G>C (p.Ser326Thr)	SP1 (S319T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454559	NM_138473.3(SP1):c.991A>G (p.Thr331Ala)	SP1 (T283A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321671	NM_138473.3(SP1):c.1063A>G (p.Thr355Ala)	SP1 (T355A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167832	NM_138473.3(SP1):c.1067C>T (p.Pro356Leu)	SP1 (P308L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541230	NM_138473.3(SP1):c.1126T>A (p.Ser376Thr)	SP1 (S328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592943	NM_138473.3(SP1):c.1166A>G (p.Glu389Gly)	SP1 (E382G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167833	NM_138473.3(SP1):c.1259T>C (p.Leu420Ser)	SP1 (L372S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514026	NM_138473.3(SP1):c.1355G>A (p.Arg452Gln)	SP1 (R452Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516436	NM_138473.3(SP1):c.1428C>G (p.Asn476Lys)	SP1 (N428K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486883	NM_138473.3(SP1):c.1457C>A (p.Pro486Gln)	SP1 (P479Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354406	NM_138473.3(SP1):c.1459A>G (p.Met487Val)	SP1 (M439V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167834	NM_138473.3(SP1):c.1463A>G (p.Gln488Arg)	SP1 (Q488R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321669	NM_138473.3(SP1):c.1465G>A (p.Gly489Ser)	SP1 (G441S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715649	NM_138473.3(SP1):c.1587C>A (p.Leu529=)	SP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2348489	NM_138473.3(SP1):c.1676G>A (p.Gly559Asp)	SP1 (G511D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321670	NM_138473.3(SP1):c.1688C>G (p.Ala563Gly)	SP1 (A556G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542314	NM_138473.3(SP1):c.1753G>A (p.Gly585Arg)	SP1 (G578R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167835	NM_138473.3(SP1):c.1850C>T (p.Ser617Leu)	SP1 (S569L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748746	NM_138473.3(SP1):c.1851G>A (p.Ser617=)	SP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359326	NM_138473.3(SP1):c.2282G>A (p.Arg761His)	SP1 (R713H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210326	NM_138473.3(SP1):c.2303A>G (p.Asn768Ser)	SP1 (N720S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716435	NM_138473.3(SP1):c.2304C>T (p.Asn768=)	SP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710359	NM_138473.3(SP1):c.2355C>T (p.Phe785=)	SP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 58