RDH13[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
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 286050	NM_001145971.2(RDH13):c.895G>A (p.Glu299Lys)	RDH13 (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650505	NM_001145971.2(RDH13):c.801C>A (p.Ala267=)	RDH13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 708832	NM_001145971.2(RDH13):c.709C>T (p.Leu237=)	RDH13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2650506	NM_001145971.2(RDH13):c.621C>T (p.Ile207=)	RDH13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 750430	NM_001145971.2(RDH13):c.405C>T (p.Thr135=)	RDH13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 744470	NM_001145971.2(RDH13):c.389G>A (p.Cys130Tyr)	RDH13 (C130Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 3024611	GRCh37/hg19 19q13.42(chr19:55525450-55560131)x3	GP6, RDH13	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 688449	GRCh37/hg19 19q13.42(chr19:55508564-55665523)x3	EPS8L1, GP6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 395080	GRCh37/hg19 19q13.42(chr19:55574798-55602281)x3	EPS8L1, PPP1R12C +1 more	Copy number gain	See cases	GLikely benign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253872	GRCh37/hg19 19q13.42(chr19:55392342-55574857)x3	FCAR, GP6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 68