ClinVar for Gene (Select 8970) - ClinVar - NCBI

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

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103780	NM_021058.4(H2BC11):c.92A>G (p.Lys31Arg)	H2BC11 (K31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103779	NM_021058.4(H2BC11):c.79G>T (p.Gly27Cys)	H2BC11 (G27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607375	NM_021058.4(H2BC11):c.52G>A (p.Ala18Thr)	H2BC11 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554199	NM_021058.4(H2BC11):c.239G>A (p.Arg80His)	H2BC11, LOC129996085 (R80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542517	NM_021058.4(H2BC11):c.59C>T (p.Thr20Ile)	H2BC11 (T20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536515	NM_021058.4(H2BC11):c.152C>A (p.Pro51His)	H2BC11 (P51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473426	NM_021058.4(H2BC11):c.137T>A (p.Leu46Gln)	H2BC11 (L46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456407	NM_021058.4(H2BC11):c.89G>A (p.Arg30His)	H2BC11 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563169	GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3	H2BC11, H2AC11 +5 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 221452	GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3	ABT1, H2AC11 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance