H4C6[gene] - ClinVar

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Items: 26

	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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 3104015	NM_003540.4(H4C6):c.13G>C (p.Gly5Arg)	H4C6 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104019	NM_003540.4(H4C6):c.41G>C (p.Gly14Ala)	H4C6 (G14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104020	NM_003540.4(H4C6):c.82C>G (p.Gln28Glu)	H4C6 (Q28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068569	NM_003540.4(H4C6):c.96G>C (p.Lys32Asn)	H4C6 (K32N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2517568	NM_003540.4(H4C6):c.113T>C (p.Leu38Ser)	H4C6 (L38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104016	NM_003540.4(H4C6):c.170G>A (p.Gly57Asp)	H4C6, LOC129996034 (G57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104017	NM_003540.4(H4C6):c.236G>C (p.Arg79Pro)	H4C6 (R79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470970	NM_003540.4(H4C6):c.244G>A (p.Val82Ile)	H4C6 (V82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719489	NM_003540.4(H4C6):c.246C>T (p.Val82=)	H4C6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104018	NM_003540.4(H4C6):c.260T>C (p.Val87Ala)	H4C6 (V87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443858	NM_003540.4(H4C6):c.283G>A (p.Gly95Arg)	H4C6 (G95R)	Single nucleotide variant (missense variant)	not provided	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 814804	GRCh37/hg19 6p22.2(chr6:26238509-26329714)x1	H2BC10, H2BC9 +7 more	Copy number loss	not provided	GLikely benign
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)	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

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Items: 26