15426[HGNC] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146998	GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	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 147080	GRCh38/hg38 14q11.2(chr14:19628843-19774043)x1	OR11H2, OR4M1 +1 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 150731	GRCh38/hg38 14q11.2(chr14:19734017-19938168)x1	OR4K1, OR4K2 +5 more	Copy number loss	See cases	GLikely benign
Select item 147147	GRCh38/hg38 14q11.2(chr14:19735319-19952661)x3	OR4K1, OR4K2 +5 more	Copy number gain	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 2562111	NM_001405963.1(OR4Q3):c.79T>A (p.Ser27Thr)	OR4Q3 (S19T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298850	NM_001405963.1(OR4Q3):c.143T>C (p.Leu48Pro)	OR4Q3 (L40P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205683	NM_001405963.1(OR4Q3):c.157A>T (p.Ile53Leu)	OR4Q3 (I45L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219870	NM_001405963.1(OR4Q3):c.178C>T (p.His60Tyr)	OR4Q3 (H52Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324546	NM_001405963.1(OR4Q3):c.259G>C (p.Val87Leu)	OR4Q3 (V87L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217007	NM_001405963.1(OR4Q3):c.262C>T (p.Pro88Ser)	OR4Q3 (P80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302957	NM_001405963.1(OR4Q3):c.266A>T (p.Lys89Met)	OR4Q3 (K89M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348907	NM_001405963.1(OR4Q3):c.270G>A (p.Met90Ile)	OR4Q3 (M82I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263527	NM_001405963.1(OR4Q3):c.347T>C (p.Leu116Pro)	OR4Q3 (L116P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644034	NM_001405963.1(OR4Q3):c.367T>C (p.Leu123=)	OR4Q3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341839	NM_001405963.1(OR4Q3):c.382G>T (p.Ala128Ser)	OR4Q3 (A128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205684	NM_001405963.1(OR4Q3):c.418C>T (p.Arg140Cys)	OR4Q3 (R132C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511301	NM_001405963.1(OR4Q3):c.493T>G (p.Ser165Ala)	OR4Q3 (S165A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205685	NM_001405963.1(OR4Q3):c.496A>G (p.Ile166Val)	OR4Q3 (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357710	NM_001405963.1(OR4Q3):c.508A>G (p.Ile170Val)	OR4Q3 (I162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525945	NM_001405963.1(OR4Q3):c.512T>A (p.Leu171Gln)	OR4Q3 (L163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304816	NM_001405963.1(OR4Q3):c.552C>A (p.Asp184Glu)	OR4Q3 (D176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205686	NM_001405963.1(OR4Q3):c.597G>A (p.Met199Ile)	OR4Q3 (M191I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302958	NM_001405963.1(OR4Q3):c.616G>T (p.Val206Leu)	OR4Q3 (V206L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644035	NM_001405963.1(OR4Q3):c.645G>C (p.Leu215=)	OR4Q3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3205687	NM_001405963.1(OR4Q3):c.676T>G (p.Ser226Ala)	OR4Q3 (S226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205688	NM_001405963.1(OR4Q3):c.685A>G (p.Ile229Val)	OR4Q3 (I221V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205689	NM_001405963.1(OR4Q3):c.701T>G (p.Leu234Arg)	OR4Q3 (L234R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205690	NM_001405963.1(OR4Q3):c.727A>G (p.Asn243Asp)	OR4Q3 (N235D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205691	NM_001405963.1(OR4Q3):c.781G>A (p.Val261Met)	OR4Q3 (V253M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367864	NM_001405963.1(OR4Q3):c.781G>T (p.Val261Leu)	OR4Q3 (V253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471103	NM_001405963.1(OR4Q3):c.784C>T (p.Pro262Ser)	OR4Q3 (P262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205692	NM_001405963.1(OR4Q3):c.788G>A (p.Cys263Tyr)	OR4Q3 (C255Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341815	NM_001405963.1(OR4Q3):c.814T>C (p.Cys272Arg)	OR4Q3 (C264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466997	NM_001405963.1(OR4Q3):c.830A>G (p.Asp277Gly)	OR4Q3 (D277G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402144	NM_001405963.1(OR4Q3):c.868A>G (p.Met290Val)	OR4Q3 (M290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289356	NM_001405963.1(OR4Q3):c.913A>T (p.Thr305Ser)	OR4Q3 (T297S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205693	NM_001405963.1(OR4Q3):c.941C>A (p.Pro314Gln)	OR4Q3 (P306Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334829	NM_001405963.1(OR4Q3):c.958C>T (p.Pro320Ser)	OR4Q3 (P320S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154826	GRCh38/hg38 14q11.2(chr14:19749125-19938168)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 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

ClinVar

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Items: 53