ADH7[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	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 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 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
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 2386387	NM_000673.7(ADH7):c.1118C>A (p.Thr373Lys)	ADH7 (T393K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392627	NM_000673.7(ADH7):c.977A>G (p.Asp326Gly)	ADH7 (D326G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550705	NM_000673.7(ADH7):c.934C>T (p.Arg312Cys)	ADH7 (R312C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273094	NM_000673.7(ADH7):c.928A>G (p.Thr310Ala)	ADH7 (T330A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273061	NM_000673.7(ADH7):c.913C>G (p.Pro305Ala)	ADH7 (P325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408596	NM_000673.7(ADH7):c.893C>T (p.Ala298Val)	ADH7 (A318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089281	NM_000673.7(ADH7):c.889T>C (p.Ser297Pro)	ADH7 (S297P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089278	NM_000673.7(ADH7):c.884C>A (p.Pro295His)	ADH7 (P315H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399347	NM_000673.7(ADH7):c.874G>A (p.Val292Ile)	ADH7 (V292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273083	NM_000673.7(ADH7):c.871G>T (p.Val291Phe)	ADH7 (V291F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089273	NM_000673.7(ADH7):c.868G>A (p.Val290Met)	ADH7 (V290M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089271	NM_000673.7(ADH7):c.832G>T (p.Ala278Ser)	ADH7 (A278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089266	NM_000673.7(ADH7):c.812A>G (p.His271Arg)	ADH7 (H271R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559749	NM_000673.7(ADH7):c.771G>A (p.Met257Ile)	ADH7 (M277I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089258	NM_000673.7(ADH7):c.763T>C (p.Ser255Pro)	ADH7 (S275P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273105	NM_000673.7(ADH7):c.682A>C (p.Lys228Gln)	ADH7 (K228Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776001	NM_000673.7(ADH7):c.676A>G (p.Lys226Glu)	ADH7 (K238E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3273041	NM_000673.7(ADH7):c.668A>T (p.Asp223Val)	ADH7 (D243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089256	NM_000673.7(ADH7):c.659T>A (p.Ile220Asn)	ADH7 (I240N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359166	NM_000673.7(ADH7):c.586G>A (p.Val196Ile)	ADH7 (V196I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352642	NM_000673.7(ADH7):c.558T>C (p.Thr186=)	ADH7	Single nucleotide variant (synonymous variant)	ADH7-related disorder	GUncertain significance
Select item 2484167	NM_000673.7(ADH7):c.521G>A (p.Cys174Tyr)	ADH7 (C174Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089241	NM_000673.7(ADH7):c.505G>C (p.Val169Leu)	ADH7 (V189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089233	NM_000673.7(ADH7):c.479T>C (p.Ile160Thr)	ADH7 (I160T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546767	NM_000673.7(ADH7):c.476A>G (p.Lys159Arg)	ADH7 (K159R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046065	NM_000673.7(ADH7):c.474T>C (p.Ala158=)	ADH7	Single nucleotide variant (synonymous variant)	ADH7-related disorder	GLikely benign
Select item 2538735	NM_000673.7(ADH7):c.401G>A (p.Gly134Asp)	ADH7 (G154D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033494	NM_000673.7(ADH7):c.359G>A (p.Arg120His)	ADH7 (R120H +1 more)	Single nucleotide variant (missense variant)	ADH7-related disorder	GLikely benign
Select item 3356952	NM_000673.7(ADH7):c.358C>T (p.Arg120Cys)	ADH7 (R120C +1 more)	Single nucleotide variant (missense variant)	ADH7-related disorder	GUncertain significance
Select item 3089209	NM_000673.7(ADH7):c.338T>A (p.Ile113Asn)	ADH7 (I133N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406068	NM_000673.7(ADH7):c.313C>T (p.Arg105Cys)	ADH7 (R125C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273071	NM_000673.7(ADH7):c.292T>G (p.Cys98Gly)	ADH7 (C98G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241596	NM_000673.7(ADH7):c.221T>A (p.Val74Glu)	ADH7 (V94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264900	NM_000673.7(ADH7):c.207G>C (p.Glu69Asp)	ADH7 (E69D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294071	NM_000673.7(ADH7):c.196G>A (p.Val66Met)	ADH7 (V86M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615820	NM_000673.7(ADH7):c.169A>G (p.Thr57Ala)	ADH7 (T57A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3037249	NM_000673.7(ADH7):c.121-6A>G	ADH7	Single nucleotide variant (intron variant)	ADH7-related disorder	GBenign
Select item 3036406	NM_000673.7(ADH7):c.120+7G>A	ADH7	Single nucleotide variant (intron variant)	ADH7-related disorder	GLikely benign
Select item 2636791	NM_000673.7(ADH7):c.119A>C (p.Lys40Thr)	ADH7 (K40T +1 more)	Single nucleotide variant (missense variant)	ADH7-related disorder	GUncertain significance
Select item 3044463	NM_000673.7(ADH7):c.113G>A (p.Arg38His)	ADH7 (R38H +1 more)	Single nucleotide variant (missense variant)	ADH7-related disorder	GLikely benign
Select item 3036118	NM_000673.7(ADH7):c.99G>A (p.Lys33=)	ADH7	Single nucleotide variant (synonymous variant)	ADH7-related disorder	GLikely benign
Select item 2301917	NM_000673.7(ADH7):c.83A>C (p.Glu28Ala)	ADH7 (E48A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273050	NM_000673.7(ADH7):c.71T>C (p.Ile24Thr)	ADH7 (I44T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539923	NM_000673.7(ADH7):c.58C>G (p.Gln20Glu)	ADH7 (Q20E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030227	NM_000673.7(ADH7):c.-4C>T	ADH7	Single nucleotide variant (5 prime UTR variant)	ADH7-related disorder	GLikely benign
Select item 3059520	NM_000673.7(ADH7):c.-35T>C	ADH7, LOC111216292	Single nucleotide variant (5 prime UTR variant)	ADH7-related disorder	GLikely benign
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2427353	NC_000004.11:g.(?_100239320)_(100528137_?)del	ADH1B, ADH1C +4 more	Deletion	not provided	GPathogenic
Select item 1477317	NC_000004.11:g.(?_100239320)_(100544005_?)dup	ADH1B, ADH1C +4 more	Duplication	not provided	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 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 688691	GRCh37/hg19 4q23(chr4:100224894-100482676)x3	ADH1B, ADH1C +3 more	Copy number gain	not provided	GUncertain significance
Select item 688689	GRCh37/hg19 4q23(chr4:100224894-100482676)x3	ADH1B, ADH1C +3 more	Copy number gain	not provided	GUncertain significance
Select item 686973	GRCh37/hg19 4q23(chr4:100239111-100509321)x3	ADH1B, ADH1C +4 more	Copy number gain	not provided	GUncertain significance
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

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Items: 67