ClinVar for Gene (Select 317772) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103727	NM_175065.3(H2AC21):c.78C>G (p.Phe26Leu)	H2AC21, LOC129931379 (F26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103726	NM_175065.3(H2AC21):c.38C>T (p.Ala13Val)	H2AC21, LOC129931379 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103725	NM_175065.3(H2AC21):c.376C>T (p.Pro126Ser)	H2AC21 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103724	NM_175065.3(H2AC21):c.146C>G (p.Pro49Arg)	H2AC21, LOC129931379 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2639151	NM_175065.3(H2AC21):c.69T>C (p.Gly23=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639150	NM_175065.3(H2AC21):c.132C>G (p.Val44=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639149	NM_175065.3(H2AC21):c.138A>C (p.Ala46=)	H2AC21, LOC129931379	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639148	NM_175065.3(H2AC21):c.183G>C (p.Ala61=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639147	NM_175065.3(H2AC21):c.186A>G (p.Glu62=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639146	NM_175065.3(H2AC21):c.189T>C (p.Ile63=)	H2AC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2553498	NM_175065.3(H2AC21):c.32C>T (p.Ala11Val)	H2AC21, LOC129931379 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533548	NM_175065.3(H2AC21):c.65C>T (p.Ala22Val)	H2AC21, LOC129931379 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565179	GRCh37/hg19 1q21.2(chr1:149802401-149944241)x3	SF3B4, H2AC19 +12 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24