SYNDIG1L[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 3172676	NM_001105579.2(SYNDIG1L):c.677T>C (p.Val226Ala)	SYNDIG1L (V226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223356	NM_001105579.2(SYNDIG1L):c.643G>A (p.Ala215Thr)	SYNDIG1L (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216595	NM_001105579.2(SYNDIG1L):c.614G>A (p.Arg205Gln)	SYNDIG1L (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403898	NM_001105579.2(SYNDIG1L):c.478G>A (p.Asp160Asn)	SYNDIG1L (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323897	NM_001105579.2(SYNDIG1L):c.361T>C (p.Ser121Pro)	SYNDIG1L (S121P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319159	NM_001105579.2(SYNDIG1L):c.334G>T (p.Ala112Ser)	SYNDIG1L (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543366	NM_001105579.2(SYNDIG1L):c.270C>A (p.Ser90Arg)	SYNDIG1L (S90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208363	NM_001105579.2(SYNDIG1L):c.77C>T (p.Pro26Leu)	SYNDIG1L (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458065	NM_001105579.2(SYNDIG1L):c.74A>G (p.Tyr25Cys)	SYNDIG1L (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172675	NM_001105579.2(SYNDIG1L):c.64C>T (p.Pro22Ser)	SYNDIG1L (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 314235	NM_006432.5(NPC2):c.*295C>G	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 314236	NM_006432.5(NPC2):c.*271C>T	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +1 more	GBenign/Likely benign
Select item 1202055	NM_006432.5(NPC2):c.*252del	NPC2, SYNDIG1L	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 314237	NM_006432.5(NPC2):c.*237G>A	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1300451	NM_006432.5(NPC2):c.*154G>A	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1340029	GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3	ABCD4, ALDH6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	ABCD4, ALDH6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 32