H3C8[gene] - ClinVar

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Items: 25

	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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 2592346	NM_003534.3(H3C8):c.383C>G (p.Ala128Gly)	H3C8 (A128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620459	NM_003534.3(H3C8):c.334G>C (p.Ala112Pro)	H3C8 (A112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103956	NM_003534.3(H3C8):c.305T>C (p.Val102Ala)	H3C8 (V102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465408	NM_003534.3(H3C8):c.302T>G (p.Leu101Trp)	H3C8 (L101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103955	NM_003534.3(H3C8):c.241A>G (p.Thr81Ala)	H3C8 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461036	NM_003534.3(H3C8):c.214G>A (p.Val72Met)	H3C8 (V72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103954	NM_003534.3(H3C8):c.194A>G (p.Lys65Arg)	H3C8 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175739	NM_003534.3(H3C8):c.107T>G (p.Val36Gly)	H3C8 (V36G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604553	NM_003534.3(H3C8):c.87C>G (p.Ser29Arg)	H3C8 (S29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517627	NM_003534.3(H3C8):c.46G>A (p.Ala16Thr)	H3C8 (A16T)	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)	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: 25