UBAP1L[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 2257352	NM_001163692.2(UBAP1L):c.1139C>T (p.Ala380Val)	UBAP1L (A380V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612589	NM_001163692.2(UBAP1L):c.1091T>G (p.Val364Gly)	UBAP1L (V364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372971	NM_001163692.2(UBAP1L):c.1069C>T (p.Arg357Trp)	UBAP1L (R357W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241507	NM_001163692.2(UBAP1L):c.1063C>A (p.Gln355Lys)	UBAP1L (Q355K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587929	NM_001163692.2(UBAP1L):c.947G>A (p.Arg316His)	UBAP1L (R316H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526398	NM_001163692.2(UBAP1L):c.938G>A (p.Arg313His)	UBAP1L (R313H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372717	NM_001163692.2(UBAP1L):c.860G>A (p.Arg287Gln)	UBAP1L (R287Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215062	NM_001163692.2(UBAP1L):c.816G>T (p.Glu272Asp)	UBAP1L (E272D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271108	NM_001163692.2(UBAP1L):c.703C>T (p.Leu235Phe)	UBAP1L (L235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358680	NM_001163692.2(UBAP1L):c.688C>G (p.Pro230Ala)	UBAP1L (P230A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280561	NM_001163692.2(UBAP1L):c.671C>A (p.Pro224Gln)	UBAP1L (P224Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2512237	NM_001163692.2(UBAP1L):c.653C>T (p.Thr218Met)	UBAP1L (T218M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355343	NM_001163692.2(UBAP1L):c.652A>G (p.Thr218Ala)	UBAP1L (T218A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595930	NM_001163692.2(UBAP1L):c.634T>G (p.Ser212Ala)	UBAP1L (S212A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304643	NM_001163692.2(UBAP1L):c.585G>C (p.Arg195Ser)	UBAP1L (R195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590671	NM_001163692.2(UBAP1L):c.580C>T (p.Pro194Ser)	UBAP1L (P194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558041	NM_001163692.2(UBAP1L):c.548C>A (p.Ala183Glu)	UBAP1L (A183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533120	NM_001163692.2(UBAP1L):c.520C>T (p.Leu174Phe)	UBAP1L (L174F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405522	NM_001163692.2(UBAP1L):c.518C>A (p.Ala173Asp)	UBAP1L (A173D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347339	NM_001163692.2(UBAP1L):c.512C>G (p.Pro171Arg)	UBAP1L (P171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351864	NM_001163692.2(UBAP1L):c.481C>T (p.Arg161Trp)	UBAP1L (R161W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345744	NM_001163692.2(UBAP1L):c.459G>T (p.Leu153Phe)	UBAP1L (L153F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372117	NM_001163692.2(UBAP1L):c.419G>T (p.Arg140Leu)	UBAP1L (R140L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208713	NM_001163692.2(UBAP1L):c.403A>G (p.Ser135Gly)	UBAP1L (S135G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275800	NM_001163692.2(UBAP1L):c.344C>T (p.Ala115Val)	UBAP1L (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466771	NM_001163692.2(UBAP1L):c.166G>T (p.Ala56Ser)	UBAP1L (A56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363801	NM_001163692.2(UBAP1L):c.79C>T (p.Leu27Phe)	UBAP1L (L27F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363322	NM_001163692.2(UBAP1L):c.65T>C (p.Leu22Pro)	UBAP1L (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	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 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
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

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Items: 42