ClinVar for Gene (Select 162394) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320472	NM_144975.4(SLFN5):c.602C>T (p.Ser201Leu)	SLFN5 (S201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320471	NM_144975.4(SLFN5):c.1895G>A (p.Arg632Gln)	SLFN5 (R632Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3320470	NM_144975.4(SLFN5):c.604A>G (p.Thr202Ala)	SLFN5 (T202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320469	NM_144975.4(SLFN5):c.1726G>T (p.Val576Phe)	SLFN5 (V576F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320468	NM_144975.4(SLFN5):c.283T>G (p.Phe95Val)	SLFN5 (F95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320467	NM_144975.4(SLFN5):c.2248T>G (p.Trp750Gly)	SLFN5 (W750G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3320466	NM_144975.4(SLFN5):c.781A>C (p.Lys261Gln)	SLFN5 (K261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320464	NM_144975.4(SLFN5):c.539G>A (p.Arg180Gln)	SLFN5 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320463	NM_144975.4(SLFN5):c.106C>T (p.Arg36Trp)	SLFN5 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320462	NM_144975.4(SLFN5):c.1070G>A (p.Arg357His)	SLFN5 (R357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320461	NM_144975.4(SLFN5):c.269A>G (p.Gln90Arg)	SLFN5 (Q90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320460	NM_144975.4(SLFN5):c.911C>T (p.Ala304Val)	SLFN5 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165988	NM_144975.4(SLFN5):c.836A>G (p.Asn279Ser)	SLFN5 (N279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165987	NM_144975.4(SLFN5):c.730G>C (p.Glu244Gln)	SLFN5 (E244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165986	NM_144975.4(SLFN5):c.676T>C (p.Tyr226His)	SLFN5 (Y226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165985	NM_144975.4(SLFN5):c.597G>T (p.Met199Ile)	SLFN5 (M199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165983	NM_144975.4(SLFN5):c.523T>G (p.Leu175Val)	SLFN5 (L175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165982	NM_144975.4(SLFN5):c.307A>T (p.Asn103Tyr)	SLFN5 (N103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165981	NM_144975.4(SLFN5):c.2591C>A (p.Ala864Asp)	SLFN5 (A864D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165980	NM_144975.4(SLFN5):c.2455C>T (p.Leu819Phe)	SLFN5 (L819F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165979	NM_144975.4(SLFN5):c.2189G>A (p.Arg730Gln)	SLFN5 (R730Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3165978	NM_144975.4(SLFN5):c.134G>A (p.Arg45Gln)	SLFN5 (R45Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165977	NM_144975.4(SLFN5):c.1192T>C (p.Ser398Pro)	SLFN5 (S398P)	Single nucleotide variant (missense variant +1 more)	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 2647666	NM_144975.4(SLFN5):c.1446C>T (p.Gly482=)	SLFN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647665	NM_144975.4(SLFN5):c.747G>A (p.Thr249=)	SLFN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619549	NM_144975.4(SLFN5):c.1351A>G (p.Ile451Val)	SLFN5 (I451V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593429	NM_144975.4(SLFN5):c.1039C>G (p.Leu347Val)	SLFN5 (L347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590679	NM_144975.4(SLFN5):c.478G>C (p.Gly160Arg)	SLFN5 (G160R)	Single nucleotide variant (missense variant)	not specified	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 2544576	NM_144975.4(SLFN5):c.1185A>C (p.Glu395Asp)	SLFN5 (E395D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522899	NM_144975.4(SLFN5):c.137C>T (p.Ala46Val)	SLFN5 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521935	NM_144975.4(SLFN5):c.443A>G (p.Asn148Ser)	SLFN5 (N148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476338	NM_144975.4(SLFN5):c.211C>T (p.Arg71Cys)	SLFN5 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475771	NM_144975.4(SLFN5):c.2584G>A (p.Gly862Arg)	SLFN5 (G862R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472753	NM_144975.4(SLFN5):c.2021A>G (p.Asp674Gly)	SLFN5 (D674G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470547	NM_144975.4(SLFN5):c.2566G>A (p.Val856Met)	SLFN5 (V856M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465403	NM_144975.4(SLFN5):c.101G>A (p.Arg34His)	SLFN5 (R34H)	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 2395833	NM_144975.4(SLFN5):c.1127G>A (p.Arg376His)	SLFN5 (R376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390442	NM_144975.4(SLFN5):c.1069C>T (p.Arg357Cys)	SLFN5 (R357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361158	NM_144975.4(SLFN5):c.1066C>T (p.Pro356Ser)	SLFN5 (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343878	NM_144975.4(SLFN5):c.1380T>A (p.Asp460Glu)	SLFN5 (D460E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325483	NM_144975.4(SLFN5):c.235C>T (p.Pro79Ser)	SLFN5 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324707	NM_144975.4(SLFN5):c.977G>A (p.Arg326Lys)	SLFN5 (R326K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311616	NM_144975.4(SLFN5):c.2050G>T (p.Asp684Tyr)	SLFN5 (D684Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310792	NM_144975.4(SLFN5):c.580C>T (p.His194Tyr)	SLFN5 (H194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304677	NM_144975.4(SLFN5):c.1571A>G (p.Gln524Arg)	SLFN5 (Q524R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296393	NM_144975.4(SLFN5):c.2618T>C (p.Leu873Pro)	SLFN5 (L873P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2265888	NM_144975.4(SLFN5):c.527T>C (p.Phe176Ser)	SLFN5 (F176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265725	NM_144975.4(SLFN5):c.1454C>A (p.Thr485Asn)	SLFN5 (T485N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255255	NM_144975.4(SLFN5):c.746C>T (p.Thr249Met)	SLFN5 (T249M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241302	NM_144975.4(SLFN5):c.704C>T (p.Thr235Ile)	SLFN5 (T235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225900	NM_144975.4(SLFN5):c.2344C>T (p.Arg782Trp)	SLFN5 (R782W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222829	NM_144975.4(SLFN5):c.317C>T (p.Ala106Val)	SLFN5 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217480	NM_144975.4(SLFN5):c.96C>A (p.Asp32Glu)	SLFN5 (D32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206685	NM_144975.4(SLFN5):c.1679A>T (p.Gln560Leu)	SLFN5 (Q560L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204420	NM_144975.4(SLFN5):c.31T>C (p.Phe11Leu)	SLFN5 (F11L)	Single nucleotide variant (missense variant)	not specified	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 781278	NM_144975.4(SLFN5):c.176A>G (p.Lys59Arg)	SLFN5 (K59R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777161	NM_144975.4(SLFN5):c.1012+7G>A	SLFN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768869	NM_144975.4(SLFN5):c.829G>A (p.Val277Ile)	SLFN5 (V277I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712648	NM_144975.4(SLFN5):c.2107T>C (p.Tyr703His)	SLFN5 (Y703H)	Single nucleotide variant (3 prime UTR variant +1 more)	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

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Links from Gene

Items: 71