ClinVar for Gene (Select 3013) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103751	NM_021065.3(H2AC7):c.50C>A (p.Thr17Asn)	H2AC7, H3C4 +1 more (T17N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103750	NM_021065.3(H2AC7):c.374A>G (p.His125Arg)	H2AC7, H3C4 +1 more (H125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103749	NM_021065.3(H2AC7):c.374A>C (p.His125Pro)	H2AC7, H3C4 +1 more (H125P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103748	NM_021065.3(H2AC7):c.280C>G (p.Leu94Val)	H2AC7, H3C4 +1 more (L94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103747	NM_021065.3(H2AC7):c.211G>C (p.Ala71Pro)	H2AC7, H3C4 +1 more (A71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103746	NM_021065.3(H2AC7):c.206A>C (p.Asn69Thr)	H2AC7, H3C4 +1 more (N69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103745	NM_021065.3(H2AC7):c.148G>T (p.Val50Leu)	H2AC7, H3C4 +1 more (V50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103744	NM_021065.3(H2AC7):c.10C>T (p.Arg4Cys)	H2AC7, H3C4 +1 more (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614817	NM_021065.3(H2AC7):c.67G>A (p.Gly23Arg)	H2AC7, H3C4 +1 more (G23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568770	NM_021065.3(H2AC7):c.80C>T (p.Pro27Leu)	H2AC7, H3C4 +1 more (P27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524791	NM_021065.3(H2AC7):c.74A>G (p.Gln25Arg)	H3C4, LOC126859627 +1 more (Q25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517176	NM_021065.3(H2AC7):c.91G>A (p.Val31Ile)	H2AC7, H3C4 +1 more (V31I)	Single nucleotide variant (missense variant +1 more)	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)	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
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27