ClinVar for MedGen (Select 902592) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664161	NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)	CACNA1G (L872I)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 2585318	NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)	CACNA1G (R1496G +5 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 2575085	NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)	CACNA1G (M1506I +2 more)	Single nucleotide variant (missense variant +3 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 2431942	NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)	CACNA1G	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 2429768	NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala)	CACNA1G (D1845A +14 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 2177469	NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)	CACNA1G (R456L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2067385	NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)	CACNA1G (R672W)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +1 more	GConflicting classifications of pathogenicity
Select item 1810305	NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)	CACNA1G (W2020R +23 more)	Single nucleotide variant (missense variant +2 more)	Juvenile myoclonic epilepsy +1 more	Gnot provided
Select item 1806321	NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)	CACNA1G (R1887W +23 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +1 more	GUncertain significance
Select item 1709627	NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp)	CACNA1G (R711W)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1708491	NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)	CACNA1G (R289H)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1704933	NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)	CACNA1G (A774T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +1 more	GUncertain significance
Select item 1699312	NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala)	CACNA1G (S490A)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1678609	NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr)	CACNA1G (S1973Y +23 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1334012	NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu)	CACNA1G (F950L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1329501	NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr)	CACNA1G (I962T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +1 more	GUncertain significance
Select item 1329487	NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly)	CACNA1G (A1038G +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1298315	NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)	CACNA1G (R1241S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276130	NM_018896.5(CACNA1G):c.1479C>T (p.His493=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	CACNA1G-related disorder +3 more	GBenign/Likely benign
Select item 1228386	NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)	CACNA1G (S937L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 1192606	NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +2 more	GBenign
Select item 1192605	NM_018896.5(CACNA1G):c.3792-87A>T	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1192604	NM_018896.5(CACNA1G):c.1925-56A>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1192603	NM_018896.5(CACNA1G):c.1141-29A>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1192602	NM_018896.5(CACNA1G):c.1141-71C>T	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1192601	NM_018896.5(CACNA1G):c.489-56T>G	CACNA1G	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 42 +2 more	GBenign
Select item 1191307	NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr)	CACNA1G (H501Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1184723	NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr)	CACNA1G (A178T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1033913	NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro)	CACNA1G (L2234P +26 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1033912	NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter)	CACNA1G (E971*)	Single nucleotide variant (nonsense +2 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1033911	NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)	CACNA1G (I803L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1030681	NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu)	CACNA1G (P2109L +26 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030680	NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg)	CACNA1G (G1699R +14 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030678	NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln)	CACNA1G (R1343Q +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 1030677	NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)	CACNA1G (S552P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1027472	NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)	CACNA1G (D1256N +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 1027471	NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)	CACNA1G (T1916N +3 more)	Indel (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 1027470	NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)	CACNA1G (I161F)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 977088	NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys)	CACNA1G (S630C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +1 more	GUncertain significance
Select item 974856	NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)	CACNA1G (L211P)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 972947	NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe)	CACNA1G (V491F)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	Gnot provided
Select item 790179	NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His)	CACNA1G (R530H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 638515	NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu)	CACNA1G (P1093L +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42 +3 more	GUncertain significance
Select item 634620	NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr)	CACNA1G (C644Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 634506	NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met)	CACNA1G (T1056M +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely benign
Select item 587511	NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu)	CACNA1G (V182L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 587452	NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln)	CACNA1G (R115Q)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 548604	NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro)	CACNA1G (S1658P +12 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance
Select item 377617	NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=)	CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 221981	NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	CACNA1G (R1715H +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic

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Items: 50