13182[HGNC] - ClinVar - NCBI

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Items: 15

	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 3216497	NM_170783.4(POLR1H):c.62C>T (p.Ser21Leu)	POLR1H, PPP1R11 (S21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216498	NM_170783.4(POLR1H):c.86T>G (p.Leu29Arg)	POLR1H, PPP1R11 (L29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216495	NM_170783.4(POLR1H):c.256C>T (p.Arg86Cys)	POLR1H, PPP1R11 (R86C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308793	NM_170783.4(POLR1H):c.274C>G (p.His92Asp)	POLR1H, PPP1R11 (H92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216496	NM_170783.4(POLR1H):c.344G>A (p.Cys115Tyr)	POLR1H, PPP1R11 (C115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808143	GRCh37/hg19 6p22.1(chr6:29730504-30202199)x3	HCG17, HLA-A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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 221454	GRCh37/hg19 6p22.1(chr6:30029374-30036983)x3	POLR1H, PPP1R11	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221338	chr6:29910378..30075843 complex variant	HLA-A, POLR1H +3 more	Complex	Breast ductal adenocarcinoma	GUncertain significance