"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "WASHC5"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196031	NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)	LOC126860498, WASHC5 (I1099T +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +3 more	GUncertain significance
Select item 361713	NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)	LOC126860498, WASHC5 (P1067L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2683027	NM_014846.4(WASHC5):c.2993C>T (p.Pro998Leu)	WASHC5 (P850L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 410080	NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)	WASHC5 (I991T +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder +4 more	GUncertain significance
Select item 3379833	NM_014846.4(WASHC5):c.2797G>A (p.Ala933Thr)	WASHC5, WASHC5-AS1 (A785T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678211	NM_014846.4(WASHC5):c.2576G>A (p.Arg859His)	WASHC5, WASHC5-AS1 (R711H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1163493	NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg)	WASHC5 (P661R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
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 1163494	NM_014846.4(WASHC5):c.2344G>A (p.Val782Met)	WASHC5 (V634M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379834	NM_014846.4(WASHC5):c.2233G>A (p.Gly745Arg)	WASHC5 (G597R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693989	NM_014846.4(WASHC5):c.2152G>A (p.Val718Ile)	WASHC5 (V570I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163495	NM_014846.4(WASHC5):c.1424G>C (p.Trp475Ser)	WASHC5 (W327S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379835	NM_014846.4(WASHC5):c.1409-4C>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 424435	NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg)	WASHC5 (L413R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 2683028	NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)	WASHC5 (M206V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 431857	NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)	WASHC5 (P216L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +3 more	GConflicting classifications of pathogenicity
Select item 1163496	NM_014846.4(WASHC5):c.575G>A (p.Ser192Asn)	WASHC5 (S192N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance