H1-8[gene] - 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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3103643	NM_153833.3(H1-8):c.24C>G (p.Ser8Arg)	H1-8 (S8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103642	NM_153833.3(H1-8):c.24C>A (p.Ser8Arg)	H1-8 (S8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103644	NM_153833.3(H1-8):c.25G>A (p.Asp9Asn)	H1-8 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103645	NM_153833.3(H1-8):c.26A>G (p.Asp9Gly)	H1-8 (D9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474873	NM_153833.3(H1-8):c.28A>G (p.Ile10Val)	H1-8 (I10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103651	NM_153833.3(H1-8):c.41C>T (p.Ser14Leu)	H1-8 (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103656	NM_153833.3(H1-8):c.50C>T (p.Thr17Ile)	H1-8 (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103662	NM_153833.3(H1-8):c.75A>C (p.Glu25Asp)	H1-8 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283293	NM_153833.3(H1-8):c.86C>A (p.Pro29Gln)	H1-8 (P29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103666	NM_153833.3(H1-8):c.98A>C (p.His33Pro)	H1-8 (H33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103638	NM_153833.3(H1-8):c.122C>T (p.Pro41Leu)	H1-8 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283289	NM_153833.3(H1-8):c.158C>A (p.Pro53His)	H1-8 (P53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103639	NM_153833.3(H1-8):c.161C>T (p.Pro54Leu)	H1-8 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103640	NM_153833.3(H1-8):c.206G>A (p.Arg69His)	H1-8 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589873	NM_153833.3(H1-8):c.209G>T (p.Arg70Leu)	H1-8 (R70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462874	NM_153833.3(H1-8):c.209G>A (p.Arg70Gln)	H1-8 (R70Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103641	NM_153833.3(H1-8):c.249C>G (p.His83Gln)	H1-8 (H83Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283288	NM_153833.3(H1-8):c.305C>T (p.Ala102Val)	H1-8 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103646	NM_153833.3(H1-8):c.316C>T (p.Arg106Cys)	H1-8 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103647	NM_153833.3(H1-8):c.331G>A (p.Ala111Thr)	H1-8 (A111T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103648	NM_153833.3(H1-8):c.356G>A (p.Arg119Lys)	H1-8 (R119K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103649	NM_153833.3(H1-8):c.362C>A (p.Ala121Asp)	H1-8 (A121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103652	NM_153833.3(H1-8):c.427G>A (p.Ala143Thr)	H1-8 (A143T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103653	NM_153833.3(H1-8):c.428C>T (p.Ala143Val)	H1-8 (A4V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103654	NM_153833.3(H1-8):c.446C>T (p.Ala149Val)	H1-8 (A10V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103655	NM_153833.3(H1-8):c.508G>A (p.Val170Met)	H1-8 (V170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283292	NM_153833.3(H1-8):c.541G>C (p.Ala181Pro)	H1-8 (A181P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614723	NM_153833.3(H1-8):c.568C>A (p.Pro190Thr)	H1-8 (P190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618261	NM_153833.3(H1-8):c.574G>A (p.Ala192Thr)	H1-8 (A192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103657	NM_153833.3(H1-8):c.575C>T (p.Ala192Val)	H1-8 (A53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103658	NM_153833.3(H1-8):c.593G>A (p.Arg198His)	H1-8 (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103659	NM_153833.3(H1-8):c.607G>A (p.Ala203Thr)	H1-8 (A203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539423	NM_153833.3(H1-8):c.629A>G (p.Gln210Arg)	H1-8 (Q71R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568961	NM_153833.3(H1-8):c.632C>T (p.Ser211Leu)	H1-8 (S211L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458328	NM_153833.3(H1-8):c.640G>T (p.Ala214Ser)	H1-8 (A75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616281	NM_153833.3(H1-8):c.655C>T (p.Pro219Ser)	H1-8 (P219S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103660	NM_153833.3(H1-8):c.674T>C (p.Met225Thr)	H1-8 (M225T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103661	NM_153833.3(H1-8):c.677G>A (p.Arg226Gln)	H1-8 (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547747	NM_153833.3(H1-8):c.698G>A (p.Gly233Glu)	H1-8 (G233E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283291	NM_153833.3(H1-8):c.797C>T (p.Thr266Met)	H1-8 (T266M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283290	NM_153833.3(H1-8):c.820G>A (p.Ala274Thr)	H1-8 (A135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619239	NM_153833.3(H1-8):c.845T>C (p.Val282Ala)	H1-8 (V143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103664	NM_153833.3(H1-8):c.910A>G (p.Lys304Glu)	H1-8 (K304E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103665	NM_153833.3(H1-8):c.914G>A (p.Gly305Asp)	H1-8 (G305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474153	NM_153833.3(H1-8):c.962C>T (p.Ala321Val)	H1-8 (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 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