ClinVar for Gene (Select 390442) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063333	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not specified	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 2558081	NM_001004479.2(OR11H4):c.371T>A (p.Leu124Gln)	OR11H4 (L124Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537635	NM_001004479.2(OR11H4):c.343C>A (p.Leu115Met)	OR11H4 (L115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464269	NM_001004479.2(OR11H4):c.335G>T (p.Cys112Phe)	OR11H4 (C112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389100	NM_001004479.2(OR11H4):c.647G>A (p.Arg216Gln)	OR11H4 (R216Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387652	NM_001004479.2(OR11H4):c.685C>T (p.Pro229Ser)	OR11H4 (P229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355516	NM_001004479.2(OR11H4):c.709G>A (p.Ala237Thr)	OR11H4 (A237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353691	NM_001004479.2(OR11H4):c.932G>A (p.Arg311His)	OR11H4 (R311H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2346614	NM_001004479.2(OR11H4):c.82T>C (p.Phe28Leu)	OR11H4 (F28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326742	NM_001004479.2(OR11H4):c.470C>T (p.Pro157Leu)	OR11H4 (P157L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319774	NM_001004479.2(OR11H4):c.403A>G (p.Ile135Val)	OR11H4 (I135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282518	NM_001004479.2(OR11H4):c.397C>T (p.Pro133Ser)	OR11H4 (P133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267948	NM_001004479.2(OR11H4):c.574G>A (p.Ala192Thr)	OR11H4 (A192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241774	NM_001004479.2(OR11H4):c.524A>T (p.Asp175Val)	OR11H4 (D175V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237825	NM_001004479.2(OR11H4):c.559C>A (p.Leu187Ile)	OR11H4 (L187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237548	NM_001004479.2(OR11H4):c.117G>T (p.Leu39Phe)	OR11H4 (L39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223078	NM_001004479.2(OR11H4):c.919G>A (p.Gly307Arg)	OR11H4 (G307R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2211738	NM_001004479.2(OR11H4):c.253A>T (p.Ile85Phe)	OR11H4 (I85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208888	NM_001004479.2(OR11H4):c.365G>T (p.Arg122Leu)	OR11H4 (R122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206876	NM_001004479.2(OR11H4):c.274A>G (p.Ile92Val)	OR11H4 (I92V)	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 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	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 687535	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not provided	GUncertain significance
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 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 151234	GRCh38/hg38 14q11.2(chr14:20223236-20248615)x3	OR11H4, OR11H6 +1 more	Copy number gain	See cases	GBenign
Select item 150675	GRCh38/hg38 14q11.2(chr14:20223278-20248671)x3	OR11H4, OR11H6 +1 more	Copy number gain	See cases	GLikely benign
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 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 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: 50