RDH16[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 147153	GRCh38/hg38 12q13.3(chr12:56942513-56980653)x1	ORI6, RDH16	Copy number loss	See cases	GBenign
Select item 2353177	NM_003708.5(RDH16):c.839G>A (p.Arg280His)	RDH16 (R280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152804	NM_003708.5(RDH16):c.833G>C (p.Arg278Pro)	RDH16 (R133P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469793	NM_003708.5(RDH16):c.833G>A (p.Arg278His)	RDH16 (R133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529208	NM_003708.5(RDH16):c.832C>G (p.Arg278Gly)	RDH16 (R278G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152803	NM_003708.5(RDH16):c.812C>T (p.Ala271Val)	RDH16 (A126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593894	NM_003708.5(RDH16):c.724T>C (p.Phe242Leu)	RDH16 (F97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293884	NM_003708.5(RDH16):c.667T>C (p.Phe223Leu)	RDH16 (F223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152801	NM_003708.5(RDH16):c.632C>A (p.Thr211Asn)	RDH16 (T66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466266	NM_003708.5(RDH16):c.607A>G (p.Met203Val)	RDH16 (M203V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780148	NM_003708.5(RDH16):c.595del (p.Gly198_Val199insTer)	RDH16	Deletion (nonsense)	not provided	GBenign
Select item 2362019	NM_003708.5(RDH16):c.515T>C (p.Phe172Ser)	RDH16 (F172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517776	NM_003708.5(RDH16):c.508T>C (p.Ser170Pro)	RDH16 (S170P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455417	NM_003708.5(RDH16):c.505G>A (p.Val169Met)	RDH16 (V169M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152799	NM_003708.5(RDH16):c.503G>A (p.Arg168Gln)	RDH16 (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215716	NM_003708.5(RDH16):c.499G>C (p.Gly167Arg)	RDH16 (G167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152798	NM_003708.5(RDH16):c.488C>A (p.Ser163Tyr)	RDH16 (S163Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152797	NM_003708.5(RDH16):c.473G>A (p.Arg158His)	RDH16 (R158H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152796	NM_003708.5(RDH16):c.453A>C (p.Leu151Phe)	RDH16 (L151F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152795	NM_003708.5(RDH16):c.341G>C (p.Gly114Ala)	RDH16 (G114A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152794	NM_003708.5(RDH16):c.328G>A (p.Val110Met)	RDH16 (V110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213712	NM_003708.5(RDH16):c.296A>G (p.Glu99Gly)	RDH16 (E99G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2373750	NM_003708.5(RDH16):c.280G>A (p.Ala94Thr)	RDH16 (A94T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281743	NM_003708.5(RDH16):c.242C>T (p.Thr81Ile)	RDH16 (T81I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 776723	NM_003708.5(RDH16):c.218C>G (p.Thr73Ser)	RDH16 (D14E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2245588	NM_003708.5(RDH16):c.166G>A (p.Val56Met)	RDH16 (V56M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456365	NM_003708.5(RDH16):c.163C>T (p.Arg55Trp)	RDH16 (R55W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2603262	NM_003708.5(RDH16):c.71T>C (p.Leu24Pro)	RDH16 (L24P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394056	NM_003708.5(RDH16):c.55C>T (p.Arg19Trp)	RDH16 (R19W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467375	NM_003708.5(RDH16):c.40C>G (p.Leu14Val)	RDH16 (L14V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354351	NM_003708.5(RDH16):c.17C>T (p.Ala6Val)	RDH16 (A6V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152802	NM_003708.5(RDH16):c.7C>T (p.Leu3Phe)	RDH16 (L3F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	MIR616, PAN2 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 687417	GRCh37/hg19 12q13.3(chr12:57218243-57347222)x1	RDH16, SDR9C7	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394186	GRCh37/hg19 12q13.3(chr12:57346683-57350897)x1	RDH16	Copy number loss	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 41