8369[Gene ID] - 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 3104024	NM_003547.3(H4C7):c.238A>C (p.Lys80Gln)	H4C7 (K80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104023	NM_003547.3(H4C7):c.208G>T (p.Ala70Ser)	H4C7 (A70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283377	NM_003547.3(H4C7):c.163A>G (p.Thr55Ala)	H4C7 (T55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104022	NM_003547.3(H4C7):c.148C>A (p.Leu50Ile)	H4C7 (L50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104021	NM_003547.3(H4C7):c.106C>T (p.Arg36Trp)	H4C7 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104029	NM_003547.3(H4C7):c.86G>A (p.Gly29Asp)	H4C7 (G29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104028	NM_003547.3(H4C7):c.71G>C (p.Ser24Thr)	H4C7 (S24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104027	NM_003547.3(H4C7):c.67C>A (p.Leu23Met)	H4C7 (L23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104026	NM_003547.3(H4C7):c.62A>G (p.Lys21Arg)	H4C7 (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546652	NM_003547.3(H4C7):c.61A>C (p.Lys21Gln)	H4C7 (K21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104025	NM_003547.3(H4C7):c.56A>T (p.His19Leu)	H4C7 (H19L)	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 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