ClinVar for Gene (Select 147710) - ClinVar

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

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285654	NM_001205280.2(IGSF23):c.296G>A (p.Arg99Gln)	IGSF23 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108882	NM_001205280.2(IGSF23):c.95C>A (p.Ala32Glu)	IGSF23 (A32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108881	NM_001205280.2(IGSF23):c.547A>G (p.Thr183Ala)	IGSF23 (T183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108880	NM_001205280.2(IGSF23):c.50G>C (p.Trp17Ser)	IGSF23 (W17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108879	NM_001205280.2(IGSF23):c.479C>T (p.Ala160Val)	IGSF23 (A160V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108877	NM_001205280.2(IGSF23):c.421C>T (p.Pro141Ser)	IGSF23 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108876	NM_001205280.2(IGSF23):c.37C>G (p.Pro13Ala)	IGSF23 (P13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108875	NM_001205280.2(IGSF23):c.167G>A (p.Arg56Gln)	IGSF23 (R56Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621007	NM_001205280.2(IGSF23):c.405G>T (p.Gln135His)	IGSF23 (Q135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604733	NM_001205280.2(IGSF23):c.517A>C (p.Met173Leu)	IGSF23 (M173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550375	NM_001205280.2(IGSF23):c.521G>A (p.Cys174Tyr)	IGSF23 (C174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537728	NM_001205280.2(IGSF23):c.251C>A (p.Thr84Asn)	IGSF23 (T84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480295	NM_001205280.2(IGSF23):c.115G>A (p.Ala39Thr)	IGSF23 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463502	NM_001205280.2(IGSF23):c.566G>A (p.Gly189Glu)	IGSF23 (G189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2393523	NM_001205280.2(IGSF23):c.469G>A (p.Gly157Arg)	IGSF23 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384410	NM_001205280.2(IGSF23):c.298C>T (p.Arg100Trp)	IGSF23 (R100W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334417	NM_001205280.2(IGSF23):c.157G>A (p.Ala53Thr)	IGSF23 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267653	NM_001205280.2(IGSF23):c.227A>G (p.Asp76Gly)	IGSF23 (D76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259364	NM_001205280.2(IGSF23):c.109T>C (p.Phe37Leu)	IGSF23 (F37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205731	NM_001205280.2(IGSF23):c.299G>A (p.Arg100Gln)	IGSF23 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 221352	chr19:44501518-45322744 complex variant	BCAM, BCL3 +22 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 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: 30