ClinVar for Gene (Select 390439) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302468	NM_001386033.1(OR11G2):c.910G>C (p.Ala304Pro)	OR11G2 (A304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204678	NM_001386033.1(OR11G2):c.725T>A (p.Phe242Tyr)	OR11G2 (F242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204677	NM_001386033.1(OR11G2):c.559C>T (p.Pro187Ser)	OR11G2 (P187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204676	NM_001386033.1(OR11G2):c.428G>T (p.Arg143Leu)	OR11G2 (R143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204675	NM_001386033.1(OR11G2):c.427C>T (p.Arg143Cys)	OR11G2 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204674	NM_001386033.1(OR11G2):c.389T>G (p.Ile130Ser)	OR11G2 (I130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204673	NM_001386033.1(OR11G2):c.209T>A (p.Phe70Tyr)	OR11G2 (F70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204672	NM_001386033.1(OR11G2):c.94T>G (p.Phe32Val)	OR11G2 (F32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204671	NM_001386033.1(OR11G2):c.16A>T (p.Ser6Cys)	OR11G2 (S6C)	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 2621235	NM_001386033.1(OR11G2):c.731C>A (p.Thr244Asn)	OR11G2 (T244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602124	NM_001386033.1(OR11G2):c.512C>T (p.Ser171Phe)	OR11G2 (S171F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594255	NM_001386033.1(OR11G2):c.-4-46G>A	OR11G2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2548131	NM_001386033.1(OR11G2):c.800C>A (p.Pro267Gln)	OR11G2 (P267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530135	NM_001386033.1(OR11G2):c.395G>A (p.Arg132Gln)	OR11G2 (R132Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522392	NM_001386033.1(OR11G2):c.391T>A (p.Cys131Ser)	OR11G2 (C131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487660	NM_001386033.1(OR11G2):c.271T>C (p.Ser91Pro)	OR11G2 (S91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477458	NM_001386033.1(OR11G2):c.394C>T (p.Arg132Trp)	OR11G2 (R132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466061	NM_001386033.1(OR11G2):c.623C>T (p.Pro208Leu)	OR11G2 (P208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400451	NM_001386033.1(OR11G2):c.247C>G (p.Pro83Ala)	OR11G2 (P83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379937	NM_001386033.1(OR11G2):c.679A>G (p.Arg227Gly)	OR11G2 (R227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330011	NM_001386033.1(OR11G2):c.75G>C (p.Arg25Ser)	OR11G2 (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323041	NM_001386033.1(OR11G2):c.893A>G (p.Asn298Ser)	OR11G2 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310894	NM_001386033.1(OR11G2):c.886C>G (p.Leu296Val)	OR11G2 (L296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310349	NM_001386033.1(OR11G2):c.326T>C (p.Phe109Ser)	OR11G2 (F109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266643	NM_001386033.1(OR11G2):c.-2A>G	OR11G2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2251209	NM_001386033.1(OR11G2):c.787T>C (p.Tyr263His)	OR11G2 (Y263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233240	NM_001386033.1(OR11G2):c.476G>T (p.Trp159Leu)	OR11G2 (W159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220804	NM_001386033.1(OR11G2):c.362T>C (p.Val121Ala)	OR11G2 (V121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ERG28, OR11G2 +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	LOC125048431, LOC125048432 +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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +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	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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Germline classification

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Links from Gene

Items: 52