ClinVar for Gene (Select 8351) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283363	NM_001376937.1(H3C4):c.304G>A (p.Val102Met)	H3C4 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283311	NM_021065.3(H2AC7):c.107G>A (p.Arg36His)	H2AC7, H3C4 +1 more (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283310	NM_021065.3(H2AC7):c.20A>G (p.Gln7Arg)	H2AC7, H3C4 +1 more (Q7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103943	NM_001376937.1(H3C4):c.389G>T (p.Arg130Leu)	H3C4 (R130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103942	NM_001376937.1(H3C4):c.343G>C (p.Ala115Pro)	H3C4 (A115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103941	NM_001376937.1(H3C4):c.314T>C (p.Phe105Ser)	H3C4 (F105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103940	NM_001376937.1(H3C4):c.290G>A (p.Cys97Tyr)	H3C4 (C97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2656309	NM_001376937.1(H3C4):c.183G>A (p.Leu61=)	H3C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2536881	NM_001376937.1(H3C4):c.97A>T (p.Thr33Ser)	H3C4 (T33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524791	NM_021065.3(H2AC7):c.74A>G (p.Gln25Arg)	H2AC7, H3C4 +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)	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: 36