H1-6[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
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

ClinVar

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Items: 58