ClinVar for Gene (Select 10116) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2621359	NM_015322.5(FEM1B):c.499A>G (p.Thr167Ala)	FEM1B (T167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599341	NM_015322.5(FEM1B):c.1445G>A (p.Arg482His)	FEM1B (R482H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594315	NM_015322.5(FEM1B):c.263G>A (p.Gly88Asp)	FEM1B (G88D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592853	NM_015322.5(FEM1B):c.953G>A (p.Arg318Gln)	FEM1B (R318Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508982	NM_015322.5(FEM1B):c.109G>A (p.Gly37Ser)	FEM1B (G37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2471985	NM_015322.5(FEM1B):c.1717A>G (p.Asn573Asp)	FEM1B (N573D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404940	NM_015322.5(FEM1B):c.1309A>G (p.Met437Val)	FEM1B (M437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311530	NM_015322.5(FEM1B):c.512G>C (p.Arg171Thr)	FEM1B (R171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302217	NM_015322.5(FEM1B):c.737G>A (p.Arg246Gln)	FEM1B (R246Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1464977	NM_015322.5(FEM1B):c.599T>C (p.Ile200Thr)	FEM1B (I200T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340344	GRCh37/hg19 15q23(chr15:68243109-68780504)x1	CALML4, CLN6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 779892	NM_015322.5(FEM1B):c.39C>T (p.Ser13=)	FEM1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +73 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27