H3C13[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3103934	NM_001123375.3(H3C13):c.370G>A (p.Asp124Asn)	H3C13 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103933	NM_001123375.3(H3C13):c.329T>A (p.Leu110Gln)	H3C13, LOC129931372 (L110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103932	NM_001123375.3(H3C13):c.262T>C (p.Ser88Pro)	H3C13, LOC129931372 (S88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588885	NM_001123375.3(H3C13):c.240G>C (p.Lys80Asn)	H3C13, LOC129931372 (K80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283357	NM_001123375.3(H3C13):c.230A>T (p.Gln77Leu)	H3C13, LOC129931372 (Q77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103931	NM_001123375.3(H3C13):c.209G>A (p.Arg70Gln)	H3C13, LOC129931372 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791809	NM_001123375.3(H3C13):c.198G>A (p.Leu66=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719341	NM_001123375.3(H3C13):c.174T>C (p.Ser58=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3283358	NM_001123375.3(H3C13):c.116C>T (p.Pro39Leu)	H3C13, LOC129931372 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556495	NM_001123375.3(H3C13):c.67A>G (p.Thr23Ala)	H3C13, LOC129931372 (T23A)	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 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22