Related gene-specific medical variations for Gene (Select 79971) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067699	NM_024911.7(WLS):c.291C>T (p.Pro97=)	GNG12-AS1, WLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053025	NM_024911.7(WLS):c.505-10C>A	GNG12-AS1, WLS	Single nucleotide variant (intron variant)	WLS-related condition	GLikely benign
Select item 3030845	NM_024911.7(WLS):c.138_169dup (p.His57delinsArgArgTer)	GNG12-AS1, WLS	Duplication (nonsense +1 more)	WLS-related condition	GUncertain significance
Select item 3029388	NM_024911.7(WLS):c.1363-3279C>A	GNG12-AS1, WLS	Single nucleotide variant (intron variant)	WLS-related condition	GUncertain significance
Select item 2620005	NM_024911.7(WLS):c.1414G>T (p.Ala472Ser)	GNG12-AS1, WLS (A381S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602250	NM_024911.7(WLS):c.1214G>A (p.Arg405Gln)	GNG12-AS1, WLS (R403Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593412	NM_024911.7(WLS):c.227A>G (p.Asp76Gly)	GNG12-AS1, WLS (D74G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585666	NM_024911.7(WLS):c.432G>A (p.Ala144=)	GNG12-AS1, WLS	Single nucleotide variant (synonymous variant)	Zaki syndrome	GBenign
Select item 2584858	NM_024911.7(WLS):c.702G>C (p.Trp234Cys)	GNG12-AS1, WLS (W143C +2 more)	Single nucleotide variant (missense variant)	Zaki syndrome	GUncertain significance
Select item 2557499	NM_024911.7(WLS):c.605C>T (p.Pro202Leu)	GNG12-AS1, WLS (P200L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526330	NM_024911.7(WLS):c.961G>A (p.Glu321Lys)	GNG12-AS1, WLS (E319K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491656	NM_024911.7(WLS):c.718T>C (p.Phe240Leu)	GNG12-AS1, WLS (F149L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470900	NM_024911.7(WLS):c.576T>A (p.His192Gln)	WLS, GNG12-AS1 (H192Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431926	NM_024911.7(WLS):c.919T>C (p.Phe307Leu)	GNG12-AS1, WLS (F216L +2 more)	Single nucleotide variant (missense variant)	Zaki syndrome	GUncertain significance
Select item 2400976	NM_024911.7(WLS):c.1467G>A (p.Met489Ile)	GNG12-AS1, WLS (M398I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389247	NM_024911.7(WLS):c.1514A>G (p.Asn505Ser)	WLS, GNG12-AS1 (N414S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367088	NM_024911.7(WLS):c.1367C>T (p.Thr456Met)	GNG12-AS1, WLS (T365M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318268	NM_024911.7(WLS):c.659G>A (p.Arg220Gln)	GNG12-AS1, WLS (R129Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312924	NM_024911.7(WLS):c.554T>C (p.Met185Thr)	GNG12-AS1, WLS (M185T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302509	NM_024911.7(WLS):c.1450T>C (p.Tyr484His)	GNG12-AS1, WLS (Y482H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298525	NM_024911.7(WLS):c.1501G>C (p.Glu501Gln)	WLS, GNG12-AS1 (E501Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296235	NM_024911.7(WLS):c.401T>C (p.Met134Thr)	WLS, GNG12-AS1 (M43T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284982	NM_024911.7(WLS):c.1354G>A (p.Val452Ile)	GNG12-AS1, WLS (V452I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283970	NM_024911.7(WLS):c.725C>T (p.Thr242Met)	GNG12-AS1, WLS (T151M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280025	NM_024911.7(WLS):c.161G>A (p.Arg54His)	WLS, GNG12-AS1 (R52H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274078	NM_024911.7(WLS):c.1168T>G (p.Cys390Gly)	GNG12-AS1, WLS (C390G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234177	NM_024911.7(WLS):c.430G>A (p.Ala144Thr)	GNG12-AS1, WLS (A142T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225415	NM_024911.7(WLS):c.1496A>G (p.Tyr499Cys)	WLS, GNG12-AS1 (Y499C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098570	NM_024911.7(WLS):c.1606C>T (p.Arg536Cys)	WLS, GNG12-AS1 (R445C +1 more)	Single nucleotide variant (missense variant +1 more)	WLS syndrome	GLikely pathogenic
Select item 1098569	NM_024911.7(WLS):c.1592T>C (p.Ile531Thr)	GNG12-AS1, WLS (I440T +1 more)	Single nucleotide variant (missense variant +1 more)	WLS syndrome	GLikely pathogenic
Select item 1098568	NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)	GNG12-AS1, WLS (Y387C +2 more)	Single nucleotide variant (missense variant)	WLS syndrome	GPathogenic
Select item 1098567	NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)	GNG12-AS1, WLS (Y301C +2 more)	Single nucleotide variant (missense variant)	WLS syndrome	GPathogenic
Select item 756682	NM_001002292.4(WLS):c.1554del (p.Phe518fs)	WLS, GNG12-AS1 (F518fs)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 33