"Ambry Genetics"[submitter] AND "RDH13"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278472	NM_001145971.2(RDH13):c.967T>G (p.Ser323Ala)	RDH13 (S252A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257337	NM_001145971.2(RDH13):c.962C>T (p.Ala321Val)	RDH13 (A250V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394905	NM_001145971.2(RDH13):c.943C>T (p.Arg315Cys)	RDH13 (R244C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152783	NM_001145971.2(RDH13):c.940G>A (p.Ala314Thr)	RDH13 (A314T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152782	NM_001145971.2(RDH13):c.919C>T (p.Arg307Trp)	RDH13 (R307W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207088	NM_001145971.2(RDH13):c.757C>A (p.Leu253Ile)	RDH13 (L182I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320043	NM_001145971.2(RDH13):c.750C>G (p.Ser250Arg)	RDH13 (S250R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313448	NM_001145971.2(RDH13):c.694G>A (p.Val232Met)	RDH13 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357554	NM_001145971.2(RDH13):c.649C>T (p.Arg217Trp)	RDH13 (R146W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276948	NM_001145971.2(RDH13):c.639G>C (p.Glu213Asp)	RDH13 (E142D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540891	NM_001145971.2(RDH13):c.625C>T (p.Leu209Phe)	RDH13 (L209F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615206	NM_001145971.2(RDH13):c.616G>A (p.Ala206Thr)	RDH13 (A206T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313447	NM_001145971.2(RDH13):c.595G>A (p.Ala199Thr)	RDH13 (A128T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313452	NM_001145971.2(RDH13):c.547G>C (p.Asp183His)	RDH13 (D112H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152780	NM_001145971.2(RDH13):c.512A>G (p.Asn171Ser)	RDH13 (N171S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602128	NM_001145971.2(RDH13):c.385C>T (p.Arg129Trp)	RDH13 (R58W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152779	NM_001145971.2(RDH13):c.374C>T (p.Ala125Val)	RDH13 (A54V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283301	NM_001145971.2(RDH13):c.368A>G (p.Asn123Ser)	RDH13 (N52S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313451	NM_001145971.2(RDH13):c.350G>T (p.Arg117Leu)	RDH13 (R117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383396	NM_001145971.2(RDH13):c.346G>C (p.Glu116Gln)	RDH13 (E45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313446	NM_001145971.2(RDH13):c.335T>C (p.Ile112Thr)	RDH13 (I112T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401015	NM_001145971.2(RDH13):c.314G>C (p.Arg105Pro)	RDH13 (R34P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378672	NM_001145971.2(RDH13):c.314G>T (p.Arg105Leu)	RDH13 (R105L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313445	NM_001145971.2(RDH13):c.281G>A (p.Arg94Gln)	RDH13 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358378	NM_001145971.2(RDH13):c.247C>T (p.Arg83Cys)	RDH13 (R12C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152777	NM_001145971.2(RDH13):c.245T>A (p.Ile82Asn)	RDH13 (I82N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367115	NM_001145971.2(RDH13):c.230C>T (p.Ala77Val)	RDH13 (A6V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152776	NM_001145971.2(RDH13):c.229G>A (p.Ala77Thr)	RDH13 (A6T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152775	NM_001145971.2(RDH13):c.211G>T (p.Asp71Tyr)	RDH13 (D71Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520235	NM_001145971.2(RDH13):c.208C>G (p.Arg70Gly)	RDH13 (R70G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327790	NM_001145971.2(RDH13):c.124A>G (p.Ile42Val)	RDH13 (I42V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152774	NM_001145971.2(RDH13):c.119C>T (p.Thr40Met)	RDH13 (T40M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 32