ClinVar for Gene (Select 144245) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2642845	NM_001013620.4(ALG10B):c.758T>G (p.Leu253Trp)	ALG10B (L253W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2609982	NM_001013620.4(ALG10B):c.386A>G (p.Gln129Arg)	ALG10B (Q129R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593469	NM_001013620.4(ALG10B):c.1260A>C (p.Leu420Phe)	ALG10B (L420F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530151	NM_001013620.4(ALG10B):c.506A>G (p.Tyr169Cys)	ALG10B (Y169C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460697	NM_001013620.4(ALG10B):c.781G>A (p.Gly261Arg)	ALG10B (G261R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395228	NM_001013620.4(ALG10B):c.930C>A (p.Ser310Arg)	ALG10B (S310R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385391	NM_001013620.4(ALG10B):c.104A>G (p.Tyr35Cys)	ALG10B, LOC126861501 (Y35C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365597	NM_001013620.4(ALG10B):c.835C>T (p.Arg279Trp)	ALG10B (R279W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347250	NM_001013620.4(ALG10B):c.1279C>T (p.Leu427Phe)	ALG10B (L427F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334161	NM_001013620.4(ALG10B):c.1397A>C (p.Gln466Pro)	ALG10B (Q466P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329008	NM_001013620.4(ALG10B):c.1358A>T (p.Tyr453Phe)	ALG10B (Y453F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306140	NM_001013620.4(ALG10B):c.120C>A (p.Phe40Leu)	ALG10B, LOC126861501 (F40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301270	NM_001013620.4(ALG10B):c.177T>A (p.Asp59Glu)	ALG10B (D59E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294546	NM_001013620.4(ALG10B):c.667A>G (p.Ile223Val)	ALG10B (I223V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283041	NM_001013620.4(ALG10B):c.47C>G (p.Thr16Ser)	ALG10B, LOC126861501 (T16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231865	NM_001013620.4(ALG10B):c.359C>T (p.Pro120Leu)	ALG10B (P120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211264	NM_001013620.4(ALG10B):c.230A>C (p.Lys77Thr)	ALG10B (K77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211236	NM_001013620.4(ALG10B):c.1123C>T (p.Pro375Ser)	ALG10B (P375S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204578	NM_001013620.4(ALG10B):c.1372A>C (p.Lys458Gln)	ALG10B (K458Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1246184	NM_001013620.4(ALG10B):c.1407A>G (p.Gln469=)	ALG10B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1050401	NM_001013620.4(ALG10B):c.377C>G (p.Ser126Ter)	ALG10B (S126*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 563977	GRCh37/hg19 12q12(chr12:38207168-40145174)x1	C12orf40, ABCD2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441613	GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3	ABCD2, ALG10B +7 more	Copy number gain	See cases	GUncertain significance
Select item 394015	GRCh37/hg19 12q12(chr12:38527748-38826097)x3	ALG10B	Copy number gain	See cases	GBenign
Select item 393839	GRCh37/hg19 12q12(chr12:38527748-38721130)x3	ALG10B	Copy number gain	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 152628	GRCh38/hg38 12q12(chr12:38059808-38467644)x3	ALG10B, LOC121832832 +4 more	Copy number gain	See cases	GBenign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36