256[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	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	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +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 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 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 776001	NM_000673.7(ADH7):c.676A>G (p.Lys226Glu)	ADH7 (K238E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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	DDX60L, MTHFD2L +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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58