OR6S1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 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 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 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
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 2224824	NM_001001968.1(OR6S1):c.985G>C (p.Ala329Pro)	OR6S1 (A329P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358127	NM_001001968.1(OR6S1):c.887G>A (p.Arg296His)	OR6S1 (R296H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278861	NM_001001968.1(OR6S1):c.887G>T (p.Arg296Leu)	OR6S1 (R296L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338944	NM_001001968.1(OR6S1):c.683T>C (p.Val228Ala)	OR6S1 (V228A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519291	NM_001001968.1(OR6S1):c.670A>G (p.Ile224Val)	OR6S1 (I224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465304	NM_001001968.1(OR6S1):c.664G>A (p.Gly222Ser)	OR6S1 (G222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568676	NM_001001968.1(OR6S1):c.625G>A (p.Val209Ile)	OR6S1 (V209I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644052	NM_001001968.1(OR6S1):c.596A>G (p.Glu199Gly)	OR6S1 (E199G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2550415	NM_001001968.1(OR6S1):c.563T>C (p.Leu188Pro)	OR6S1 (L188P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546297	NM_001001968.1(OR6S1):c.547G>C (p.Asp183His)	OR6S1 (D183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357243	NM_001001968.1(OR6S1):c.365C>T (p.Ala122Val)	OR6S1 (A122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2224186	NM_001001968.1(OR6S1):c.61A>G (p.Asn21Asp)	OR6S1 (N21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980001	GRCh37/hg19 14q11.2(chr14:21109252-21182930)x1	ANG, OR6S1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	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 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	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 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 39