ClinVar for Gene (Select 122748) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302492	NM_001004480.1(OR11H6):c.725C>G (p.Ala242Gly)	OR11H6 (A242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302491	NM_001004480.1(OR11H6):c.746G>A (p.Gly249Asp)	OR11H6 (G249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302490	NM_001004480.1(OR11H6):c.881T>C (p.Leu294Pro)	OR11H6 (L294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204727	NM_001004480.1(OR11H6):c.886T>C (p.Tyr296His)	OR11H6 (Y296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204726	NM_001004480.1(OR11H6):c.794T>C (p.Val265Ala)	OR11H6 (V265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204725	NM_001004480.1(OR11H6):c.715G>A (p.Val239Ile)	OR11H6 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204724	NM_001004480.1(OR11H6):c.586G>T (p.Val196Leu)	OR11H6 (V196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204723	NM_001004480.1(OR11H6):c.479T>C (p.Ile160Thr)	OR11H6 (I160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204722	NM_001004480.1(OR11H6):c.363C>A (p.Phe121Leu)	OR11H6 (F121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204721	NM_001004480.1(OR11H6):c.264G>C (p.Glu88Asp)	OR11H6 (E88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204720	NM_001004480.1(OR11H6):c.253G>C (p.Ala85Pro)	OR11H6 (A85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204718	NM_001004480.1(OR11H6):c.158A>C (p.Tyr53Ser)	OR11H6 (Y53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2565373	NM_001004480.1(OR11H6):c.631C>T (p.Pro211Ser)	OR11H6 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544696	NM_001004480.1(OR11H6):c.781T>A (p.Ser261Thr)	OR11H6 (S261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474813	NM_001004480.1(OR11H6):c.700G>A (p.Gly234Arg)	OR11H6 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408365	NM_001004480.1(OR11H6):c.874A>G (p.Ile292Val)	OR11H6 (I292V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389128	NM_001004480.1(OR11H6):c.419G>A (p.Arg140Gln)	OR11H6 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372438	NM_001004480.1(OR11H6):c.598G>A (p.Gly200Ser)	OR11H6 (G200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321105	NM_001004480.1(OR11H6):c.75T>A (p.His25Gln)	OR11H6 (H25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251376	NM_001004480.1(OR11H6):c.635C>T (p.Ser212Phe)	OR11H6 (S212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222432	NM_001004480.1(OR11H6):c.340G>A (p.Gly114Ser)	OR11H6 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219692	NM_001004480.1(OR11H6):c.208G>A (p.Asp70Asn)	OR11H6 (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217292	NM_001004480.1(OR11H6):c.230T>A (p.Met77Lys)	OR11H6 (M77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215864	NM_001004480.1(OR11H6):c.535G>T (p.Val179Phe)	OR11H6 (V179F)	Single nucleotide variant (missense variant)	not specified	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)	GTF2A1, GZMB +624 more	Copy number gain	See cases	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 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 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	LOC125048449, LOC125048450 +3277 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	LOC112214170, LOC112214171 +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

ClinVar

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Links from Gene

Items: 51