ClinVar for Gene (Select 3010) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283283	NM_005323.4(H1-6):c.122A>G (p.Asn41Ser)	H1-6 (N41S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283282	NM_005323.4(H1-6):c.344T>C (p.Val115Ala)	H1-6 (V115A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283281	NM_005323.4(H1-6):c.470G>A (p.Arg157Lys)	H1-6 (R157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283280	NM_005323.4(H1-6):c.358A>G (p.Thr120Ala)	H1-6 (T120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283279	NM_005323.4(H1-6):c.542G>A (p.Ser181Asn)	H1-6 (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103616	NM_005323.4(H1-6):c.563C>T (p.Ser188Leu)	H1-6 (S188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103615	NM_005323.4(H1-6):c.529C>A (p.Gln177Lys)	H1-6 (Q177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103614	NM_005323.4(H1-6):c.426G>C (p.Lys142Asn)	H1-6 (K142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103613	NM_005323.4(H1-6):c.349C>T (p.Pro117Ser)	H1-6 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103612	NM_005323.4(H1-6):c.329A>G (p.Lys110Arg)	H1-6 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103611	NM_005323.4(H1-6):c.274G>A (p.Val92Met)	H1-6 (V92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103610	NM_005323.4(H1-6):c.23C>T (p.Ala8Val)	H1-6 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103609	NM_005323.4(H1-6):c.239A>G (p.Asn80Ser)	H1-6 (N80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103608	NM_005323.4(H1-6):c.226G>C (p.Asp76His)	H1-6 (D76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103607	NM_005323.4(H1-6):c.206C>T (p.Ala69Val)	H1-6 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103606	NM_005323.4(H1-6):c.182T>C (p.Met61Thr)	H1-6 (M61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103605	NM_005323.4(H1-6):c.173G>A (p.Arg58Gln)	H1-6 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103604	NM_005323.4(H1-6):c.16C>T (p.Pro6Ser)	H1-6 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103603	NM_005323.4(H1-6):c.149A>G (p.Glu50Gly)	H1-6 (E50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103602	NM_005323.4(H1-6):c.142A>G (p.Ile48Val)	H1-6 (I48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103601	NM_005323.4(H1-6):c.137A>G (p.Lys46Arg)	H1-6 (K46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103599	NM_005323.4(H1-6):c.124C>T (p.Leu42Phe)	H1-6 (L42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103598	NM_005323.4(H1-6):c.122A>C (p.Asn41Thr)	H1-6 (N41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103597	NM_005323.4(H1-6):c.112A>C (p.Lys38Gln)	H1-6 (K38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2614816	NM_005323.4(H1-6):c.337A>G (p.Lys113Glu)	H1-6 (K113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609383	NM_005323.4(H1-6):c.47C>T (p.Ala16Val)	H1-6 (A16V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606239	NM_005323.4(H1-6):c.334A>G (p.Ser112Gly)	H1-6 (S112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602516	NM_005323.4(H1-6):c.418G>T (p.Asp140Tyr)	H1-6 (D140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602329	NM_005323.4(H1-6):c.568T>C (p.Ser190Pro)	H1-6 (S190P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602078	NM_005323.4(H1-6):c.86C>T (p.Pro29Leu)	H1-6 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601216	NM_005323.4(H1-6):c.544C>T (p.Pro182Ser)	H1-6 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592074	NM_005323.4(H1-6):c.215C>T (p.Ala72Val)	H1-6 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590170	NM_005323.4(H1-6):c.476C>G (p.Thr159Arg)	H1-6 (T159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549224	NM_005323.4(H1-6):c.46G>T (p.Ala16Ser)	H1-6 (A16S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542681	NM_005323.4(H1-6):c.89C>G (p.Ala30Gly)	H1-6 (A30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541840	NM_005323.4(H1-6):c.566A>G (p.Lys189Arg)	H1-6 (K189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536466	NM_005323.4(H1-6):c.608C>G (p.Ala203Gly)	H1-6 (A203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509397	NM_005323.4(H1-6):c.248G>A (p.Arg83His)	H1-6 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479391	NM_005323.4(H1-6):c.136A>G (p.Lys46Glu)	H1-6 (K46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472414	NM_005323.4(H1-6):c.181A>G (p.Met61Val)	H1-6 (M61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467179	NM_005323.4(H1-6):c.96G>C (p.Leu32Phe)	H1-6 (L32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1341201	GRCh37/hg19 6p22.2(chr6:26008259-26168230)x1	H1-1, H1-2 +14 more	Copy number loss	not provided	GPathogenic
Select item 979707	GRCh37/hg19 6p22.2(chr6:26090243-26265667)x3	H2BC5, H2BC6 +19 more	Copy number gain	not provided	GUncertain significance
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 688972	GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3	H1-3, H1-4 +24 more	Copy number gain	not provided	GUncertain significance
Select item 688901	GRCh37/hg19 6p22.2(chr6:26067079-26207758)x1	H1-4, H1-6 +11 more	Copy number loss	not provided	GUncertain significance
Select item 686739	GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3	H1-1, H1-2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 685082	GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4	H1-1, H1-2 +34 more	Copy number gain	not provided	GUncertain significance
Select item 563167	GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	H1-1, H1-2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221451	GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4	H3C4, H3C6 +24 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 152408	GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3	H1-1, H1-2 +30 more	Copy number gain	See cases	GLikely benign
Select item 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 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

Links from Gene

Items: 58