RDH8[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 3313468	NM_015725.4(RDH8):c.-8G>A	RDH8	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 783821	NM_015725.4(RDH8):c.80A>G (p.His27Arg)	RDH8 (H27R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785606	NM_015725.4(RDH8):c.237T>C (p.Cys79=)	RDH8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3152806	NM_015725.4(RDH8):c.253G>C (p.Asp85His)	RDH8 (D85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492617	NM_015725.4(RDH8):c.274G>A (p.Gly92Arg)	LOC126862852, RDH8 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481729	NM_015725.4(RDH8):c.274G>C (p.Gly92Arg)	LOC126862852, RDH8 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783822	NM_015725.4(RDH8):c.411C>T (p.Ile137=)	LOC126862852, RDH8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715543	NM_015725.4(RDH8):c.464A>T (p.Tyr155Phe)	RDH8 (Y155F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3313466	NM_015725.4(RDH8):c.551A>C (p.Glu184Ala)	RDH8 (E184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478701	NM_015725.4(RDH8):c.718C>T (p.Gln240Ter)	RDH8 (Q240*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3152807	NM_015725.4(RDH8):c.799C>T (p.Leu267Phe)	RDH8 (L267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596156	NM_015725.4(RDH8):c.860G>A (p.Arg287His)	RDH8 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791350	NM_015725.4(RDH8):c.917C>T (p.Thr306Met)	RDH8 (T306M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 560043	Single allele	ANGPTL6, EIF3G +5 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 21