ClinVar for Gene (Select 8344) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283336	NM_003523.3(H2BC6):c.373T>G (p.Ser125Ala)	H2BC6 (S125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283335	NM_003523.3(H2BC6):c.31C>T (p.Pro11Ser)	H2BC6 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283334	NM_003523.3(H2BC6):c.167C>T (p.Ser56Phe)	H2BC6 (S56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103833	NM_003523.3(H2BC6):c.76G>T (p.Asp26Tyr)	H2BC6 (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103832	NM_003523.3(H2BC6):c.32C>T (p.Pro11Leu)	H2BC6 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103831	NM_003523.3(H2BC6):c.32C>G (p.Pro11Arg)	H2BC6 (P11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103830	NM_003523.3(H2BC6):c.249T>G (p.His83Gln)	H2BC6, LOC129996021 (H83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103829	NM_003523.3(H2BC6):c.20C>G (p.Ser7Cys)	H2BC6 (S7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103828	NM_003523.3(H2BC6):c.20C>A (p.Ser7Tyr)	H2BC6 (S7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103827	NM_003523.3(H2BC6):c.11C>T (p.Pro4Leu)	H2BC6 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2656308	NM_003523.3(H2BC6):c.70AAG[1] (p.Lys25del)	H2BC7, H2BC6 (K25del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2622313	NM_003523.3(H2BC6):c.113A>G (p.Tyr38Cys)	H2BC6 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620708	NM_003523.3(H2BC6):c.110G>C (p.Ser37Thr)	H2BC6 (S37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602868	NM_003523.3(H2BC6):c.29C>T (p.Ala10Val)	H2BC6 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588990	NM_003523.3(H2BC6):c.268A>G (p.Ile90Val)	H2BC6, LOC129996021 (I90V)	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 688972	GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3	H1-3, H1-4 +24 more	Copy number gain	not provided	GUncertain significance
Select item 688901	GRCh37/hg19 6p22.2(chr6:26067079-26207758)x1	H1-4, H1-6 +11 more	Copy number loss	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
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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31