ClinVar for Gene (Select 57469) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2521879	NM_020709.3(PNMA8B):c.568G>T (p.Ala190Ser)	PNMA8B (A190S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518868	NM_020709.3(PNMA8B):c.1555G>A (p.Glu519Lys)	PNMA8B (E519K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508633	NM_020709.3(PNMA8B):c.1811G>A (p.Arg604Lys)	PNMA8B (R604K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2496360	NM_020709.3(PNMA8B):c.537G>T (p.Lys179Asn)	PNMA8B (K179N)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490158	NM_020709.3(PNMA8B):c.1730C>T (p.Ala577Val)	PNMA8B (A577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471805	NM_020709.3(PNMA8B):c.902C>A (p.Thr301Asn)	PNMA8B (T301N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471785	NM_020709.3(PNMA8B):c.620A>G (p.Glu207Gly)	PNMA8B (E207G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470363	NM_020709.3(PNMA8B):c.896G>A (p.Arg299Lys)	PNMA8B (R299K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 22