ClinVar for MedGen (Select 1634646) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256753	NM_014846.4(WASHC5):c.1859T>C (p.Val620Ala)	WASHC5 (V472A +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 3256600	NM_014846.4(WASHC5):c.3182-2A>G	LOC126860498, WASHC5	Single nucleotide variant (splice acceptor variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 3255170	NM_014846.4(WASHC5):c.1102_1103del (p.Asp368fs)	WASHC5 (D220fs +1 more)	Microsatellite (frameshift variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 3233573	NM_014846.4(WASHC5):c.210del (p.Lys70fs)	WASHC5 (K70fs)	Deletion (5 prime UTR variant +1 more)	Ritscher-Schinzel syndrome 1	GPathogenic
Select item 2576957	NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC	WASHC5	Indel (intron variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 2431692	NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)	WASHC5, LOC126860498 (P1070fs +1 more)	Deletion (frameshift variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 2431685	NM_014846.4(WASHC5):c.1136A>G (p.His379Arg)	WASHC5 (H231R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 2230355	NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)	WASHC5, WASHC5-AS1 (E798K +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1801336	NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG	WASHC5	Indel (intron variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 1299699	NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)	WASHC5 (K662M +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +2 more	GUncertain significance
Select item 1030375	NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)	WASHC5, WASHC5-AS1 (K950R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +1 more	GUncertain significance
Select item 1030373	NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys)	WASHC5 (R605C +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 986026	NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)	WASHC5 (R682Q +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 986025	NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)	WASHC5 (Q78*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 982853	NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg)	WASHC5 (L230R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 951266	NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)	WASHC5 (E61K +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +3 more	GUncertain significance
Select item 935991	NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)	WASHC5 (E245D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 851171	NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)	WASHC5 (Q628R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 802440	NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)	WASHC5 (C140*)	Single nucleotide variant (5 prime UTR variant +1 more)	Ritscher-Schinzel syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 632587	NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)	DPYSL5 (G47R)	Single nucleotide variant (missense variant)	Dandy-Walker syndrome +3 more	GConflicting classifications of pathogenicity
Select item 583269	NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)	WASHC5 (R228* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 570582	NM_014846.4(WASHC5):c.1151-2A>G	WASHC5	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 8 +1 more	GLikely pathogenic
Select item 531993	NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)	WASHC5 (S291N +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +1 more	GUncertain significance
Select item 463137	NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	WASHC5 (S591P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 374553	NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)	WASHC5 (I808V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +4 more	GUncertain significance
Select item 361712	NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +5 more	GBenign/Likely benign
Select item 219414	NM_014846.4(WASHC5):c.867A>C (p.Val289=)	WASHC5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 218106	NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)	CCDC22 (Y557C)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GPathogenic
Select item 218105	NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	CCDC22 (T17A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GPathogenic
Select item 92129	NM_014846.4(WASHC5):c.3335+2T>A	LOC126860498, WASHC5	Single nucleotide variant (splice donor variant)	Ritscher-Schinzel syndrome 1 +1 more	GPathogenic

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Items: 30