H1-5[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2568641	NM_005322.3(H1-5):c.667G>A (p.Ala223Thr)	H1-5 (A223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522778	NM_005322.3(H1-5):c.662C>T (p.Ala221Val)	H1-5 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103595	NM_005322.3(H1-5):c.632C>A (p.Ala211Glu)	H1-5 (A211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103594	NM_005322.3(H1-5):c.631G>C (p.Ala211Pro)	H1-5 (A211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476507	NM_005322.3(H1-5):c.597G>T (p.Lys199Asn)	H1-5 (K199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603968	NM_005322.3(H1-5):c.586G>A (p.Val196Ile)	H1-5 (V196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103593	NM_005322.3(H1-5):c.569C>T (p.Pro190Leu)	H1-5 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103592	NM_005322.3(H1-5):c.544A>C (p.Lys182Gln)	H1-5 (K182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103591	NM_005322.3(H1-5):c.538G>A (p.Ala180Thr)	H1-5 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103590	NM_005322.3(H1-5):c.487G>C (p.Ala163Pro)	H1-5 (A163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103589	NM_005322.3(H1-5):c.443C>T (p.Ala148Val)	H1-5 (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521534	NM_005322.3(H1-5):c.404C>T (p.Ala135Val)	H1-5 (A135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103588	NM_005322.3(H1-5):c.362C>A (p.Pro121His)	H1-5 (P121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103587	NM_005322.3(H1-5):c.311C>T (p.Ala104Val)	H1-5 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103586	NM_005322.3(H1-5):c.304A>T (p.Thr102Ser)	H1-5 (T102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103585	NM_005322.3(H1-5):c.190G>A (p.Ala64Thr)	H1-5 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593348	NM_005322.3(H1-5):c.151G>A (p.Val51Met)	H1-5 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103584	NM_005322.3(H1-5):c.128T>C (p.Val43Ala)	H1-5 (V43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103583	NM_005322.3(H1-5):c.119G>T (p.Gly40Val)	H1-5, LOC129996147 (G40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103582	NM_005322.3(H1-5):c.118G>T (p.Gly40Trp)	H1-5, LOC129996147 (G40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491709	NM_005322.3(H1-5):c.116C>T (p.Thr39Met)	H1-5, LOC129996147 (T39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103596	NM_005322.3(H1-5):c.89G>A (p.Gly30Asp)	H1-5, LOC129996147 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470228	NM_005322.3(H1-5):c.74C>T (p.Thr25Ile)	H1-5, LOC129996147 (T25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062925	GRCh37/hg19 6p22.1(chr6:27613035-28021256)x3	H1-5, H2AC13 +17 more	Copy number gain	not specified	GUncertain significance
Select item 814806	GRCh37/hg19 6p22.1(chr6:27616157-28011557)x3	H4C12, H2AC17 +17 more	Copy number gain	not provided	GLikely benign
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 221453	GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3	H2BC13, H2BC14 +14 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 31