H4C11[gene] - ClinVar

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Items: 20

	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 2656315	NM_021968.4(H4C11):c.9C>T (p.Gly3=)	H4C11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2681786	NM_021968.4(H4C11):c.106C>T (p.Arg36Trp)	H4C11 (R36W)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 2	GLikely pathogenic
Select item 2443859	NM_021968.4(H4C11):c.121C>T (p.Arg41Cys)	H4C11 (R41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335618	NM_021968.4(H4C11):c.136C>T (p.Arg46Cys)	H4C11 (R46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235276	NM_021968.4(H4C11):c.153C>G (p.Ile51Met)	H4C11 (I51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235277	NM_021968.4(H4C11):c.256G>C (p.Asp86His)	H4C11 (D86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770165	NM_021968.4(H4C11):c.261G>A (p.Val87=)	H4C11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342159	NM_021968.4(H4C11):c.274A>G (p.Lys92Glu)	H4C11 (K92E)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 2	GPathogenic
Select item 3236106	NM_021968.4(H4C11):c.284G>A (p.Gly95Asp)	H4C11 (G95D)	Single nucleotide variant (missense variant)	Tessadori-van Haaften neurodevelopmental syndrome 2	GUncertain significance
Select item 3235278	NM_021968.4(H4C11):c.295T>C (p.Tyr99His)	H4C11 (Y99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251603	NM_021968.4(H4C11):c.*7C>T	H4C11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226154	NM_021968.4(H4C11):c.*14T>C	H4C11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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: 20