ADAL[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 2209117	NM_014793.5(LCMT2):c.137C>T (p.Ala46Val)	ADAL, LCMT2 (A46V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209731	NM_014793.5(LCMT2):c.134C>T (p.Ala45Val)	ADAL, LCMT2 (A45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351505	NM_014793.5(LCMT2):c.109T>C (p.Phe37Leu)	ADAL, LCMT2 (F37L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369620	NM_014793.5(LCMT2):c.37G>C (p.Val13Leu)	ADAL, LCMT2 (V13L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207081	NM_014793.5(LCMT2):c.4G>A (p.Gly2Ser)	ADAL, LCMT2 (G2S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143766	NM_001324366.2(ADAL):c.91A>G (p.Ile31Val)	ADAL (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606839	NM_001324366.2(ADAL):c.221A>G (p.His74Arg)	ADAL (H74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486489	NM_001324366.2(ADAL):c.229A>C (p.Thr77Pro)	ADAL (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548394	NM_001324366.2(ADAL):c.238C>T (p.Pro80Ser)	ADAL (P80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517547	NM_001324366.2(ADAL):c.271A>G (p.Ile91Val)	ADAL (I91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780160	NM_001324366.2(ADAL):c.399A>G (p.Lys133=)	ADAL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484238	NM_001324366.2(ADAL):c.442G>T (p.Asp148Tyr)	ADAL (D148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143754	NM_001324366.2(ADAL):c.550A>G (p.Thr184Ala)	ADAL (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143758	NM_001324366.2(ADAL):c.698G>T (p.Gly233Val)	ADAL (G206V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778490	NM_001324366.2(ADAL):c.714C>T (p.Ser238=)	ADAL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2370604	NM_001324366.2(ADAL):c.727T>A (p.Ser243Thr)	ADAL (S243T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222846	NM_001324366.2(ADAL):c.935C>T (p.Thr312Ile)	ADAL (T285I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206996	NM_001324366.2(ADAL):c.1054G>A (p.Val352Met)	ADAL (V352M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526448	GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)	ADAL, CCNDBP1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980033	GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1	TGM7, TP53BP1 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815707	GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3	EPB42, TGM5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688815	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687806	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687568	GRCh37/hg19 15q15.2-15.3(chr15:43277078-43634358)x3	ADAL, CCNDBP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687483	GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3	ADAL, CCNDBP1 +9 more	Copy number gain	not provided	GUncertain significance
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 +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 40