ClinVar for Gene (Select 384) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684732	GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3	ARG2, PIGH +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2617865	NM_001172.4(ARG2):c.523G>A (p.Val175Ile)	ARG2, GPHN (V175I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613720	NM_001172.4(ARG2):c.304G>A (p.Val102Met)	ARG2, GPHN (V102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590464	NM_001172.4(ARG2):c.571G>T (p.Ala191Ser)	ARG2, GPHN (A191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589445	NM_001172.4(ARG2):c.5C>A (p.Ser2Tyr)	ARG2, GPHN (S2Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559571	NM_001172.4(ARG2):c.974A>G (p.Gln325Arg)	ARG2, GPHN +1 more (Q325R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549483	NM_001172.4(ARG2):c.956T>C (p.Ile319Thr)	ARG2, GPHN +1 more (I319T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532278	NM_001172.4(ARG2):c.508G>C (p.Glu170Gln)	ARG2, GPHN (E170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529372	NM_001172.4(ARG2):c.988G>A (p.Gly330Arg)	ARG2, GPHN +1 more (G330R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493482	NM_001172.4(ARG2):c.18C>G (p.Ser6Arg)	ARG2, GPHN (S6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459699	NM_001172.4(ARG2):c.315A>T (p.Arg105Ser)	ARG2, GPHN (R105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405587	NM_001172.4(ARG2):c.1018C>T (p.Pro340Ser)	GPHN, VTI1B +1 more (P340S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402785	NM_001172.4(ARG2):c.487C>A (p.Pro163Thr)	ARG2, GPHN (P163T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390468	NM_001172.4(ARG2):c.727C>A (p.Gln243Lys)	ARG2, GPHN +1 more (Q243K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291364	NM_006370.3(VTI1B):c.604G>T (p.Val202Leu)	GPHN, ARG2 +1 more (V202L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286913	NM_001172.4(ARG2):c.673C>G (p.Leu225Val)	ARG2, GPHN (L225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265312	NM_001172.4(ARG2):c.395G>A (p.Arg132Gln)	GPHN, ARG2 (R132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239823	NM_001172.4(ARG2):c.560G>A (p.Cys187Tyr)	GPHN, ARG2 (C187Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226528	NM_001172.4(ARG2):c.316G>C (p.Ala106Pro)	ARG2, GPHN (A106P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213548	NM_006370.3(VTI1B):c.649C>T (p.Leu217Phe)	VTI1B, GPHN +1 more (L217F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RAD51B, RDH11 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815670	GRCh37/hg19 14q24.1(chr14:68037409-68278365)x3	VTI1B, RDH12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 770239	NM_001172.4(ARG2):c.924G>A (p.Ala308=)	ARG2, GPHN +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 757604	NM_001172.4(ARG2):c.528A>G (p.Pro176=)	ARG2, GPHN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717631	NM_001172.4(ARG2):c.10A>T (p.Arg4Trp)	ARG2, GPHN (R4W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714579	NM_001172.4(ARG2):c.108G>A (p.Gly36=)	ARG2, GPHN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635772	GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3	ARG2, RDH11 +3 more	Copy number gain	Hemangioma +3 more	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40