SLFN12L[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2215043	NM_001363830.2(SLFN12L):c.1738C>T (p.Leu580Phe)	SLFN12L (L538F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350787	NM_001363830.2(SLFN12L):c.1718T>C (p.Met573Thr)	SLFN12L (M573T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382806	NM_001363830.2(SLFN12L):c.1579A>C (p.Ile527Leu)	SLFN12L (I485L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258008	NM_001363830.2(SLFN12L):c.1553A>G (p.Gln518Arg)	SLFN12L (Q476R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484503	NM_001363830.2(SLFN12L):c.1509G>A (p.Met503Ile)	SLFN12L (M461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248605	NM_001363830.2(SLFN12L):c.1508T>G (p.Met503Arg)	SLFN12L (M461R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2280759	NM_001363830.2(SLFN12L):c.1483C>G (p.Pro495Ala)	SLFN12L (P495A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323592	NM_001363830.2(SLFN12L):c.1460C>A (p.Ala487Asp)	SLFN12L (A445D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363949	NM_001363830.2(SLFN12L):c.1442A>G (p.His481Arg)	SLFN12L (H481R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611541	NM_001363830.2(SLFN12L):c.1259T>A (p.Leu420Gln)	SLFN12L (L378Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361402	NM_001363830.2(SLFN12L):c.1229G>A (p.Arg410His)	SLFN12L (R368H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291609	NM_001363830.2(SLFN12L):c.1181C>T (p.Pro394Leu)	SLFN12L (P352L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613024	NM_001363830.2(SLFN12L):c.1037C>T (p.Ala346Val)	SLFN12L (A346V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382998	NM_001363830.2(SLFN12L):c.1001T>A (p.Val334Glu)	SLFN12L (V334E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768871	NM_001363830.2(SLFN12L):c.757A>T (p.Thr253Ser)	SLFN12L (T229S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234216	NM_001363830.2(SLFN12L):c.641A>C (p.Gln214Pro)	SLFN12L (Q214P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791345	NM_001363830.2(SLFN12L):c.271T>A (p.Cys91Ser)	SLFN12L (C67S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2684845	GRCh37/hg19 17q12(chr17:33769812-33983362)x3	AP2B1, PEX12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684844	GRCh37/hg19 17q12(chr17:33758250-34082140)x3	AP2B1, GAS2L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1707622	GRCh37/hg19 17q12(chr17:33766040-34001896)x3	SLFN12, SLFN12L +4 more	Copy number gain	Isolated anorectal malformation	GUncertain significance
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 442885	GRCh37/hg19 17q12(chr17:33498726-33863479)x1	SLC35G3, SLFN11 +5 more	Copy number loss	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 30