ClinVar for Gene (Select 51705) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685124	GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1	BANK1, CISD2 +12 more	Copy number loss	not provided	GPathogenic
Select item 2606743	NM_016242.4(EMCN):c.61A>G (p.Thr21Ala)	EMCN (T21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602780	NM_016242.4(EMCN):c.757C>T (p.His253Tyr)	EMCN (H240Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550808	NM_016242.4(EMCN):c.359A>G (p.Gln120Arg)	EMCN (Q120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533871	NM_016242.4(EMCN):c.377C>A (p.Thr126Asn)	EMCN (T126N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512595	NM_016242.4(EMCN):c.244A>G (p.Thr82Ala)	EMCN (T82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493731	NM_016242.4(EMCN):c.586G>T (p.Val196Phe)	EMCN (V183F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470498	NM_016242.4(EMCN):c.173G>C (p.Gly58Ala)	EMCN (G58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468270	NM_016242.4(EMCN):c.691C>A (p.Pro231Thr)	EMCN (P218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351609	NM_016242.4(EMCN):c.625C>G (p.Leu209Val)	EMCN (L209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344299	NM_016242.4(EMCN):c.727G>A (p.Val243Ile)	EMCN (V243I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2342813	NM_016242.4(EMCN):c.118A>G (p.Ile40Val)	EMCN (I40V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339158	NM_016242.4(EMCN):c.716A>G (p.Lys239Arg)	EMCN (K226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254664	NM_016242.4(EMCN):c.295G>A (p.Asp99Asn)	EMCN (D99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208227	NM_016242.4(EMCN):c.457A>T (p.Thr153Ser)	EMCN (T140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 790552	NM_016242.4(EMCN):c.726C>T (p.Thr242=)	EMCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776002	NM_016242.4(EMCN):c.313G>A (p.Val105Ile)	EMCN (V105I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31