ClinVar for Gene (Select 59342) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611831	NM_021626.3(SCPEP1):c.1351C>A (p.Gln451Lys)	SCPEP1 (Q451K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594026	NM_021626.3(SCPEP1):c.1172T>G (p.Leu391Arg)	SCPEP1 (L391R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590813	NM_021626.3(SCPEP1):c.311C>G (p.Thr104Ser)	SCPEP1 (T104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569051	NM_021626.3(SCPEP1):c.1151G>A (p.Arg384Gln)	SCPEP1 (R384Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560973	NM_021626.3(SCPEP1):c.323C>A (p.Ala108Asp)	SCPEP1 (A108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514232	NM_021626.3(SCPEP1):c.557G>A (p.Arg186Gln)	SCPEP1 (R186Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408379	NM_021626.3(SCPEP1):c.850T>G (p.Ser284Ala)	SCPEP1 (S284A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395428	NM_021626.3(SCPEP1):c.581C>T (p.Ala194Val)	SCPEP1 (A194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380755	NM_021626.3(SCPEP1):c.310A>G (p.Thr104Ala)	SCPEP1 (T104A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366558	NM_021626.3(SCPEP1):c.1117A>T (p.Ile373Phe)	SCPEP1 (I373F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366250	NM_021626.3(SCPEP1):c.1120G>A (p.Val374Ile)	SCPEP1 (V374I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364150	NM_021626.3(SCPEP1):c.1342G>A (p.Val448Met)	SCPEP1 (V448M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357909	NM_021626.3(SCPEP1):c.1049T>C (p.Ile350Thr)	SCPEP1 (I350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356209	NM_021626.3(SCPEP1):c.896G>A (p.Arg299His)	SCPEP1 (R299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345781	NM_021626.3(SCPEP1):c.545A>T (p.Lys182Met)	SCPEP1 (K182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309262	NM_021626.3(SCPEP1):c.1294A>G (p.Met432Val)	SCPEP1 (M432V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308770	NM_021626.3(SCPEP1):c.86T>C (p.Ile29Thr)	SCPEP1 (I29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215236	NM_021626.3(SCPEP1):c.1063G>A (p.Glu355Lys)	SCPEP1 (E355K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 564455	GRCh37/hg19 17q22(chr17:54584318-55220914)x1	NOG, COIL +5 more	Copy number loss	not provided	GPathogenic
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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33