ClinVar for Gene (Select 26534) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2608596	NM_001005466.2(OR10G2):c.274C>T (p.Pro92Ser)	OR10G2, TRA (P92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606175	NM_001005466.2(OR10G2):c.109A>G (p.Ile37Val)	TRA, OR10G2 (I37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534966	NM_001005466.2(OR10G2):c.667T>C (p.Tyr223His)	OR10G2, TRA (Y223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473746	NM_001005466.2(OR10G2):c.79C>A (p.Leu27Ile)	OR10G2, TRA (L27I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466900	NM_001005466.2(OR10G2):c.44A>C (p.Asp15Ala)	OR10G2, TRA (D15A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387796	NM_001005466.2(OR10G2):c.722G>A (p.Arg241Gln)	TRA, OR10G2 (R241Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377686	NM_001005466.2(OR10G2):c.245C>T (p.Thr82Ile)	TRA, OR10G2 (T82I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2359499	NM_001005466.2(OR10G2):c.15A>T (p.Lys5Asn)	OR10G2, TRA (K5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349397	NM_001005466.2(OR10G2):c.668A>G (p.Tyr223Cys)	TRA, OR10G2 (Y223C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338106	NM_001005466.2(OR10G2):c.184C>T (p.Arg62Cys)	TRA, OR10G2 (R62C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330851	NM_001005466.2(OR10G2):c.911T>C (p.Leu304Pro)	TRA, OR10G2 (L304P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321454	NM_001005466.2(OR10G2):c.290T>C (p.Ile97Thr)	OR10G2, TRA (I97T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316582	NM_001005466.2(OR10G2):c.41C>G (p.Thr14Arg)	OR10G2, TRA (T14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299444	NM_001005466.2(OR10G2):c.469G>A (p.Gly157Ser)	TRA, OR10G2 (G157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297449	NM_001005466.2(OR10G2):c.23C>T (p.Ser8Leu)	OR10G2, TRA (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241084	NM_001005466.2(OR10G2):c.577G>T (p.Ala193Ser)	OR10G2, TRA (A193S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212508	NM_001005466.2(OR10G2):c.34G>A (p.Val12Met)	OR10G2, TRA (V12M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207461	NM_001005466.2(OR10G2):c.119T>A (p.Ile40Asn)	OR10G2, TRA (I40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	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 981171	Single allele	ABHD4, DAD1 +5 more	Deletion	not provided	GUncertain significance
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 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
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 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
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 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45