ClinVar for Gene (Select 441670) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3388592	NM_001005500.2(OR4M1):c.63G>A (p.Arg21=)	OR4M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3302939	NM_001005500.2(OR4M1):c.823G>T (p.Val275Leu)	OR4M1 (V275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302938	NM_001005500.2(OR4M1):c.872T>C (p.Leu291Ser)	OR4M1 (L291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302937	NM_001005500.2(OR4M1):c.116T>C (p.Leu39Pro)	OR4M1 (L39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302936	NM_001005500.2(OR4M1):c.413G>A (p.Arg138Gln)	OR4M1 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302935	NM_001005500.2(OR4M1):c.843C>G (p.Phe281Leu)	OR4M1 (F281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205643	NM_001005500.2(OR4M1):c.743T>C (p.Ile248Thr)	OR4M1 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205642	NM_001005500.2(OR4M1):c.703A>C (p.Thr235Pro)	OR4M1 (T235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205641	NM_001005500.2(OR4M1):c.656C>A (p.Ala219Asp)	OR4M1 (A219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205640	NM_001005500.2(OR4M1):c.541A>T (p.Ile181Phe)	OR4M1 (I181F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205639	NM_001005500.2(OR4M1):c.373G>T (p.Ala125Ser)	OR4M1 (A125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205638	NM_001005500.2(OR4M1):c.320T>C (p.Val107Ala)	OR4M1 (V107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205637	NM_001005500.2(OR4M1):c.136A>G (p.Ile46Val)	OR4M1 (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619135	NM_001005500.2(OR4M1):c.245T>C (p.Leu82Pro)	OR4M1 (L82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543800	NM_001005500.2(OR4M1):c.194A>T (p.Asn65Ile)	OR4M1 (N65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409047	NM_001005500.2(OR4M1):c.938A>G (p.Lys313Arg)	OR4M1 (K313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395437	NM_001005500.2(OR4M1):c.416G>A (p.Arg139His)	OR4M1 (R139H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351473	NM_001005500.2(OR4M1):c.155A>G (p.Asp52Gly)	OR4M1 (D52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345009	NM_001005500.2(OR4M1):c.926T>G (p.Leu309Trp)	OR4M1 (L309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344378	NM_001005500.2(OR4M1):c.728A>G (p.Tyr243Cys)	OR4M1 (Y243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342091	NM_001005500.2(OR4M1):c.805C>G (p.Leu269Val)	OR4M1 (L269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299335	NM_001005500.2(OR4M1):c.220T>C (p.Ser74Pro)	OR4M1 (S74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274620	NM_001005500.2(OR4M1):c.702T>G (p.Asn234Lys)	OR4M1 (N234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255862	NM_001005500.2(OR4M1):c.13A>C (p.Asn5His)	OR4M1 (N5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251844	NM_001005500.2(OR4M1):c.784C>T (p.Arg262Cys)	OR4M1 (R262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226110	NM_001005500.2(OR4M1):c.433G>T (p.Val145Leu)	OR4M1 (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770616	NM_001005500.2(OR4M1):c.297A>G (p.Ala99=)	OR4M1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +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 147239	GRCh38/hg38 14q11.2(chr14:19730807-19997817)x3	OR4K1, OR4K15 +6 more	Copy number gain	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 147080	GRCh38/hg38 14q11.2(chr14:19628843-19774043)x1	OR11H2, OR4M1 +1 more	Copy number loss	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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Germline classification

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Links from Gene

Items: 47