RDH14[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 155299	GRCh38/hg38 2p24.2-24.1(chr2:18439073-19428650)x1	LINC01376, LOC121725080 +21 more	Copy number loss	See cases	GUncertain significance
Select item 2307903	NM_020905.4(RDH14):c.961G>T (p.Ala321Ser)	NT5C1B-RDH14, RDH14 (A321S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152793	NM_020905.4(RDH14):c.908T>C (p.Phe303Ser)	NT5C1B-RDH14, RDH14 (F617S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152791	NM_020905.4(RDH14):c.884T>C (p.Val295Ala)	NT5C1B-RDH14, RDH14 (V609A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618691	NM_020905.4(RDH14):c.854C>T (p.Thr285Ile)	NT5C1B-RDH14, RDH14 (T285I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313457	NM_020905.4(RDH14):c.848C>T (p.Ala283Val)	NT5C1B-RDH14, RDH14 (A597V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313454	NM_020905.4(RDH14):c.799C>G (p.Leu267Val)	NT5C1B-RDH14, RDH14 (L267V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398518	NM_020905.4(RDH14):c.794A>T (p.Lys265Ile)	NT5C1B-RDH14, RDH14 (K579I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554525	NM_020905.4(RDH14):c.751C>T (p.Arg251Trp)	NT5C1B-RDH14, RDH14 (R565W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152790	NM_020905.4(RDH14):c.682A>G (p.Thr228Ala)	NT5C1B-RDH14, RDH14 (T542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543900	NM_020905.4(RDH14):c.635A>T (p.Asn212Ile)	NT5C1B-RDH14, RDH14 (N212I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313453	NM_020905.4(RDH14):c.608A>G (p.Asp203Gly)	NT5C1B-RDH14, RDH14 (D517G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484780	NM_020905.4(RDH14):c.538A>G (p.Lys180Glu)	NT5C1B-RDH14, RDH14 (K494E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472727	NM_020905.4(RDH14):c.335G>A (p.Arg112Gln)	LOC129933177, NT5C1B-RDH14 +1 more (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611536	NM_020905.4(RDH14):c.328A>G (p.Ile110Val)	LOC129933177, NT5C1B-RDH14 +1 more (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493551	NM_020905.4(RDH14):c.299A>G (p.Glu100Gly)	LOC129933177, NT5C1B-RDH14 +1 more (E100G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152788	NM_020905.4(RDH14):c.296C>G (p.Pro99Arg)	LOC129933177, NT5C1B-RDH14 +1 more (P99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313458	NM_020905.4(RDH14):c.263G>C (p.Arg88Pro)	LOC129933177, NT5C1B-RDH14 +1 more (R88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208488	NM_020905.4(RDH14):c.232G>A (p.Ala78Thr)	LOC129933177, NT5C1B-RDH14 +1 more (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250965	NM_020905.4(RDH14):c.175A>G (p.Thr59Ala)	LOC129933177, NT5C1B-RDH14 +1 more (T59A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337164	NM_020905.4(RDH14):c.161G>A (p.Gly54Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G54D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152787	NM_020905.4(RDH14):c.148G>T (p.Gly50Trp)	LOC129933177, NT5C1B-RDH14 +1 more (G50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349894	NM_020905.4(RDH14):c.145A>G (p.Thr49Ala)	LOC129933177, NT5C1B-RDH14 +1 more (T49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229244	NM_020905.4(RDH14):c.131A>G (p.Lys44Arg)	LOC129933177, NT5C1B-RDH14 +1 more (K44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294683	NM_020905.4(RDH14):c.125A>G (p.His42Arg)	LOC129933177, NT5C1B-RDH14 +1 more (H42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 827760	NM_020905.4(RDH14):c.114dup (p.Gly39fs)	LOC129933177, NT5C1B-RDH14 +1 more (G39fs)	Duplication (frameshift variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 3152786	NM_020905.4(RDH14):c.113C>T (p.Pro38Leu)	LOC129933177, NT5C1B-RDH14 +1 more (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152784	NM_020905.4(RDH14):c.104G>A (p.Gly35Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469373	NM_020905.4(RDH14):c.86T>A (p.Val29Asp)	LOC129933177, NT5C1B-RDH14 +1 more (V29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313456	NM_020905.4(RDH14):c.80C>G (p.Pro27Arg)	LOC129933177, NT5C1B-RDH14 +1 more (P27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313455	NM_020905.4(RDH14):c.64C>T (p.Arg22Cys)	LOC129933177, NT5C1B-RDH14 +1 more (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373517	NM_020905.4(RDH14):c.46G>C (p.Ala16Pro)	LOC129933177, NT5C1B-RDH14 +1 more (A16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152789	NM_020905.4(RDH14):c.32C>A (p.Ala11Asp)	LOC129933177, NT5C1B-RDH14 +1 more (A11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152785	NM_020905.4(RDH14):c.10G>C (p.Ala4Pro)	LOC129933177, NT5C1B-RDH14 +1 more (A4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 446356	GRCh37/hg19 2p24.2(chr2:17814030-18851257)x3	GEN1, KCNS3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 55