H1-3[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 3283260	NM_005320.3(H1-3):c.653C>G (p.Pro218Arg)	H1-3 (P218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103547	NM_005320.3(H1-3):c.646G>C (p.Ala216Pro)	H1-3 (A216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103546	NM_005320.3(H1-3):c.641A>G (p.Lys214Arg)	H1-3 (K214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103545	NM_005320.3(H1-3):c.631A>G (p.Thr211Ala)	H1-3 (T211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103542	NM_005320.3(H1-3):c.607C>T (p.Pro203Ser)	H1-3 (P203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103541	NM_005320.3(H1-3):c.602C>G (p.Ala201Gly)	H1-3 (A201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103539	NM_005320.3(H1-3):c.584C>T (p.Ala195Val)	H1-3 (A195V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103538	NM_005320.3(H1-3):c.578C>T (p.Ala193Val)	H1-3 (A193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283262	NM_005320.3(H1-3):c.577G>A (p.Ala193Thr)	H1-3 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656310	NM_005320.3(H1-3):c.554_556del (p.Lys185_Ala186delinsThr)	H1-3	Deletion (inframe_indel)	not provided	GLikely benign
Select item 3103537	NM_005320.3(H1-3):c.531G>C (p.Lys177Asn)	H1-3 (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103536	NM_005320.3(H1-3):c.512T>C (p.Val171Ala)	H1-3 (V171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103535	NM_005320.3(H1-3):c.497C>T (p.Ala166Val)	H1-3 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532561	NM_005320.3(H1-3):c.490A>G (p.Thr164Ala)	H1-3 (T164A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613079	NM_005320.3(H1-3):c.479A>G (p.Lys160Arg)	H1-3 (K160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518299	NM_005320.3(H1-3):c.470A>C (p.Lys157Thr)	H1-3 (K157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511396	NM_005320.3(H1-3):c.458A>G (p.Lys153Arg)	H1-3 (K153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283261	NM_005320.3(H1-3):c.437C>T (p.Ala146Val)	H1-3 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471413	NM_005320.3(H1-3):c.425T>C (p.Val142Ala)	H1-3 (V142A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103533	NM_005320.3(H1-3):c.397G>A (p.Ala133Thr)	H1-3 (A133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596261	NM_005320.3(H1-3):c.385C>T (p.Pro129Ser)	H1-3 (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103531	NM_005320.3(H1-3):c.371C>G (p.Ala124Gly)	H1-3 (A124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605163	NM_005320.3(H1-3):c.370G>A (p.Ala124Thr)	H1-3 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103530	NM_005320.3(H1-3):c.364A>C (p.Lys122Gln)	H1-3 (K122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103529	NM_005320.3(H1-3):c.356C>T (p.Pro119Leu)	H1-3 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595733	NM_005320.3(H1-3):c.338C>T (p.Ala113Val)	H1-3 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463592	NM_005320.3(H1-3):c.333A>C (p.Lys111Asn)	H1-3 (K111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518747	NM_005320.3(H1-3):c.288G>T (p.Gln96His)	H1-3 (Q96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103526	NM_005320.3(H1-3):c.283G>T (p.Val95Leu)	H1-3 (V95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103523	NM_005320.3(H1-3):c.253C>T (p.Leu85Phe)	H1-3 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589727	NM_005320.3(H1-3):c.253C>G (p.Leu85Val)	H1-3 (L85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541939	NM_005320.3(H1-3):c.233A>G (p.Asn78Ser)	H1-3 (N78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103521	NM_005320.3(H1-3):c.225A>C (p.Glu75Asp)	H1-3 (E75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103520	NM_005320.3(H1-3):c.212G>C (p.Gly71Ala)	H1-3 (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103519	NM_005320.3(H1-3):c.208G>A (p.Ala70Thr)	H1-3 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103518	NM_005320.3(H1-3):c.206C>T (p.Ala69Val)	H1-3 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103517	NM_005320.3(H1-3):c.205G>A (p.Ala69Thr)	H1-3 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103516	NM_005320.3(H1-3):c.203C>T (p.Ala68Val)	H1-3 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103515	NM_005320.3(H1-3):c.157A>G (p.Lys53Glu)	H1-3 (K53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562075	NM_005320.3(H1-3):c.152C>T (p.Ala51Val)	H1-3 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103514	NM_005320.3(H1-3):c.118C>G (p.Pro40Ala)	H1-3 (P40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103513	NM_005320.3(H1-3):c.106G>A (p.Ala36Thr)	H1-3 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534831	NM_005320.3(H1-3):c.95G>C (p.Gly32Ala)	H1-3 (G32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103548	NM_005320.3(H1-3):c.71C>T (p.Ala24Val)	H1-3 (A24V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103543	NM_005320.3(H1-3):c.62A>T (p.Lys21Met)	H1-3 (K21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916277	NM_005320.3(H1-3):c.54A>G (p.Thr18=)	H1-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521073	NM_005320.3(H1-3):c.43G>C (p.Ala15Pro)	H1-3 (A15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103532	NM_005320.3(H1-3):c.37G>A (p.Ala13Thr)	H1-3 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103528	NM_005320.3(H1-3):c.31A>G (p.Ile11Val)	H1-3 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103527	NM_005320.3(H1-3):c.28A>G (p.Thr10Ala)	H1-3 (T10A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103525	NM_005320.3(H1-3):c.26C>T (p.Pro9Leu)	H1-3 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103524	NM_005320.3(H1-3):c.25C>T (p.Pro9Ser)	H1-3 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103522	NM_005320.3(H1-3):c.22G>A (p.Ala8Thr)	H1-3 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103540	NM_005320.3(H1-3):c.5C>T (p.Ser2Leu)	H1-3 (S2L)	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 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 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 563168	GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	H2BC6, H3C4 +26 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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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

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Items: 68