H4C8[gene] - ClinVar

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Items: 22

	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 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3104031	NM_003543.4(H4C8):c.166C>T (p.Arg56Cys)	H4C8, LOC126859628 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104030	NM_003543.4(H4C8):c.103A>C (p.Ile35Leu)	H4C8, LOC126859628 (I35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283379	NM_003543.4(H4C8):c.83A>G (p.Gln28Arg)	H4C8, LOC126859628 (Q28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495022	NM_003543.4(H4C8):c.83A>C (p.Gln28Pro)	H4C8, LOC126859628 (Q28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283378	NM_003543.4(H4C8):c.58C>T (p.Arg20Cys)	H4C8, LOC126859628 (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104033	NM_003543.4(H4C8):c.44G>A (p.Gly15Glu)	H4C8, LOC126859628 (G15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104032	NM_003543.4(H4C8):c.19G>A (p.Gly7Ser)	H4C8, LOC126859628 (G7S)	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 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 814805	GRCh37/hg19 6p22.2(chr6:26256525-26536884)x3	TRX-CAT1-2, BTN3A1 +9 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: 22