ClinVar for Gene (Select 8355) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3103955	NM_003534.3(H3C8):c.241A>G (p.Thr81Ala)	H3C8 (T81A)	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 2620459	NM_003534.3(H3C8):c.334G>C (p.Ala112Pro)	H3C8 (A112P)	Single nucleotide variant (missense variant)	not specified	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 2592346	NM_003534.3(H3C8):c.383C>G (p.Ala128Gly)	H3C8 (A128G)	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 2465408	NM_003534.3(H3C8):c.302T>G (p.Leu101Trp)	H3C8 (L101W)	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 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	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 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)	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

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: 25