ClinVar for Gene (Select 390431) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205629	NM_001005501.2(OR4K2):c.580G>A (p.Val194Ile)	OR4K2 (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205628	NM_001005501.2(OR4K2):c.535T>C (p.Cys179Arg)	OR4K2 (C179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205627	NM_001005501.2(OR4K2):c.490C>T (p.Leu164Phe)	OR4K2 (L164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205625	NM_001005501.2(OR4K2):c.430C>T (p.Leu144Phe)	OR4K2 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205624	NM_001005501.2(OR4K2):c.303A>G (p.Ile101Met)	OR4K2 (I101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205623	NM_001005501.2(OR4K2):c.215C>G (p.Ser72Cys)	OR4K2 (S72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644036	NM_001005501.2(OR4K2):c.216T>G (p.Ser72=)	OR4K2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603695	NM_001005501.2(OR4K2):c.455G>C (p.Gly152Ala)	OR4K2 (G152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588803	NM_001005501.2(OR4K2):c.777G>A (p.Met259Ile)	OR4K2 (M259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547561	NM_001005501.2(OR4K2):c.855A>G (p.Ile285Met)	OR4K2 (I285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530410	NM_001005501.2(OR4K2):c.931G>A (p.Ala311Thr)	OR4K2 (A311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524392	NM_001005501.2(OR4K2):c.136G>C (p.Val46Leu)	OR4K2 (V46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485043	NM_001005501.2(OR4K2):c.433G>T (p.Val145Leu)	OR4K2 (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396150	NM_001005501.2(OR4K2):c.461T>C (p.Met154Thr)	OR4K2 (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382962	NM_001005501.2(OR4K2):c.781C>T (p.Pro261Ser)	OR4K2 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374168	NM_001005501.2(OR4K2):c.349G>C (p.Ala117Pro)	OR4K2 (A117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365272	NM_001005501.2(OR4K2):c.932C>A (p.Ala311Glu)	OR4K2 (A311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350545	NM_001005501.2(OR4K2):c.716C>A (p.Thr239Asn)	OR4K2 (T239N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325803	NM_001005501.2(OR4K2):c.346A>G (p.Met116Val)	OR4K2 (M116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323938	NM_001005501.2(OR4K2):c.299A>C (p.Gln100Pro)	OR4K2 (Q100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305401	NM_001005501.2(OR4K2):c.935T>G (p.Met312Arg)	OR4K2 (M312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293063	NM_001005501.2(OR4K2):c.557A>G (p.Gln186Arg)	OR4K2 (Q186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272741	NM_001005501.2(OR4K2):c.299A>G (p.Gln100Arg)	OR4K2 (Q100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246081	NM_001005501.2(OR4K2):c.494C>T (p.Thr165Met)	OR4K2 (T165M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244541	NM_001005501.2(OR4K2):c.665T>C (p.Leu222Pro)	OR4K2 (L222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210427	NM_001005501.2(OR4K2):c.722C>T (p.Thr241Ile)	OR4K2 (T241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 221864	GRCh37/hg19 14q11.2(chr14:20213937-20420338)x3	OR4K1, OR4K2 +4 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 157298	Single allele	LOC101929572, OR11H12 +9 more	Duplication	Large for gestational age	Gnot provided
Select item 154826	GRCh38/hg38 14q11.2(chr14:19749125-19938168)x1	OR4K1, OR4K2 +5 more	Copy number loss	See cases	GLikely benign
Select item 150731	GRCh38/hg38 14q11.2(chr14:19734017-19938168)x1	OR4K1, OR4K2 +5 more	Copy number loss	See cases	GLikely benign
Select item 149787	GRCh38/hg38 14q11.2(chr14:19749125-19938168)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 149453	GRCh38/hg38 14q11.2(chr14:19785749-19938168)x1	OR4K1, OR4K2 +3 more	Copy number loss	See cases	GBenign
Select item 147239	GRCh38/hg38 14q11.2(chr14:19730807-19997817)x3	OR4K1, OR4K15 +6 more	Copy number gain	See cases	GBenign
Select item 147232	GRCh38/hg38 14q11.2(chr14:19882763-19929543)x1	OR4K1, OR4K2 +1 more	Copy number loss	See cases	GBenign
Select item 147183	GRCh38/hg38 14q11.2(chr14:19870613-19952661)x1	OR4K1, OR4K2 +1 more	Copy number loss	See cases	GBenign
Select item 147147	GRCh38/hg38 14q11.2(chr14:19735319-19952661)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 147108	GRCh38/hg38 14q11.2(chr14:19617023-19967729)x1	OR11H2, OR4K1 +6 more	Copy number loss	See cases	GBenign
Select item 147097	GRCh38/hg38 14q11.2(chr14:19735319-19941173)x3	OR4K1, OR4K2 +5 more	Copy number gain	See cases	GBenign
Select item 146998	GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 146963	GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	LINC01296, LINC01297 +17 more	Copy number loss	See cases	GBenign
Select item 146947	GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	LINC01296, LINC01297 +17 more	Copy number gain	See cases	GBenign
Select item 146936	GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48