ClinVar for Gene (Select 100506736) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320438	NM_001363830.2(SLFN12L):c.1505A>G (p.His502Arg)	SLFN12L (H460R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320437	NM_001363830.2(SLFN12L):c.1168T>C (p.Cys390Arg)	SLFN12L (C348R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320436	NM_001363830.2(SLFN12L):c.292G>A (p.Gly98Arg)	SLFN12L (G56R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320435	NM_001363830.2(SLFN12L):c.143A>T (p.Asp48Val)	SLFN12L (D6V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320434	NM_001363830.2(SLFN12L):c.569A>G (p.Asp190Gly)	SLFN12L (D148G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320433	NM_001363830.2(SLFN12L):c.1792C>T (p.Arg598Cys)	SLFN12L (R598C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3165946	NM_001363830.2(SLFN12L):c.823G>T (p.Asp275Tyr)	SLFN12L (D275Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165945	NM_001363830.2(SLFN12L):c.692A>T (p.Glu231Val)	SLFN12L (E231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165944	NM_001363830.2(SLFN12L):c.691G>A (p.Glu231Lys)	SLFN12L (E231K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165943	NM_001363830.2(SLFN12L):c.419A>T (p.Gln140Leu)	SLFN12L (Q98L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165942	NM_001363830.2(SLFN12L):c.302T>C (p.Ile101Thr)	SLFN12L (I101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165941	NM_001363830.2(SLFN12L):c.1793G>A (p.Arg598His)	SLFN12L (R598H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165940	NM_001363830.2(SLFN12L):c.1687G>C (p.Glu563Gln)	SLFN12L (E521Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165939	NM_001363830.2(SLFN12L):c.1484C>T (p.Pro495Leu)	SLFN12L (P453L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165938	NM_001363830.2(SLFN12L):c.1410C>A (p.Ser470Arg)	SLFN12L (S428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165937	NM_001363830.2(SLFN12L):c.201G>C (p.Glu67Asp)	SLFN12L (E25D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165936	NM_001363830.2(SLFN12L):c.173T>C (p.Leu58Pro)	SLFN12L (L58P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613024	NM_001363830.2(SLFN12L):c.1037C>T (p.Ala346Val)	SLFN12L (A346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611541	NM_001363830.2(SLFN12L):c.1259T>A (p.Leu420Gln)	SLFN12L (L378Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2484503	NM_001363830.2(SLFN12L):c.1509G>A (p.Met503Ile)	SLFN12L (M461I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2382998	NM_001363830.2(SLFN12L):c.1001T>A (p.Val334Glu)	SLFN12L (V334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382806	NM_001363830.2(SLFN12L):c.1579A>C (p.Ile527Leu)	SLFN12L (I485L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363949	NM_001363830.2(SLFN12L):c.1442A>G (p.His481Arg)	SLFN12L (H481R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361402	NM_001363830.2(SLFN12L):c.1229G>A (p.Arg410His)	SLFN12L (R368H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350787	NM_001363830.2(SLFN12L):c.1718T>C (p.Met573Thr)	SLFN12L (M573T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323592	NM_001363830.2(SLFN12L):c.1460C>A (p.Ala487Asp)	SLFN12L (A445D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291609	NM_001363830.2(SLFN12L):c.1181C>T (p.Pro394Leu)	SLFN12L (P352L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280759	NM_001363830.2(SLFN12L):c.1483C>G (p.Pro495Ala)	SLFN12L (P495A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258008	NM_001363830.2(SLFN12L):c.1553A>G (p.Gln518Arg)	SLFN12L (Q476R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248605	NM_001363830.2(SLFN12L):c.1508T>G (p.Met503Arg)	SLFN12L (M461R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234216	NM_001363830.2(SLFN12L):c.641A>C (p.Gln214Pro)	SLFN12L (Q214P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215043	NM_001363830.2(SLFN12L):c.1738C>T (p.Leu580Phe)	SLFN12L (L538F +1 more)	Single nucleotide variant (missense variant)	not specified	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 791345	NM_001363830.2(SLFN12L):c.271T>A (p.Cys91Ser)	SLFN12L (C67S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49