Related gene-specific medical variations for Gene (Select 49855) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068119	NM_020843.4(SCAPER):c.3969del (p.Ala1324fs)	SCAPER (A1078fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 3065980	NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter)	SCAPER (Y542* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 3044749	NM_020843.4(SCAPER):c.3200A>G (p.Asn1067Ser)	LOC126862183, SCAPER (N1067S +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related condition	GLikely benign
Select item 2645582	NM_020843.4(SCAPER):c.3079-8T>C	LOC126862183, SCAPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645581	NM_020843.4(SCAPER):c.3311G>A (p.Ser1104Asn)	LOC126862183, SCAPER (S1104N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633825	NM_020843.4(SCAPER):c.3267dup (p.Ser1090fs)	LOC126862183, SCAPER (S1090fs +4 more)	Duplication (frameshift variant +1 more)	SCAPER-related condition	GLikely pathogenic
Select item 2595022	NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)	LOC126862183, SCAPER (G792E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502904	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)	LOC126862183, SCAPER (R1098Q +4 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 2475469	NM_020843.4(SCAPER):c.3242C>T (p.Pro1081Leu)	LOC126862183, SCAPER (P953L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435663	NM_020843.4(SCAPER):c.1250C>T (p.Ser417Phe)	SCAPER (S171F +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 2435662	NM_020843.4(SCAPER):c.1382A>T (p.Asp461Val)	SCAPER (D215V +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 2435661	NM_020843.4(SCAPER):c.1883T>C (p.Phe628Ser)	SCAPER (F382S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 2241366	NM_020843.4(SCAPER):c.3203G>A (p.Arg1068Gln)	LOC126862183, SCAPER (R1068Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808650	GRCh37/hg19 15q24.3(chr15:76842952-77016134)x1	SCAPER	Copy number loss	not provided	GUncertain significance
Select item 1801462	NM_020843.4(SCAPER):c.3311+2919_3311+2920insTTTACACTTTTACTAAATTTTAATTTAAAATTTAGTAAATTAAAATAAAATTTTACTATTTTTAATTAGGCTTGTTTTACACTTGGGTTTTTT	SCAPER	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801429	Single allele	SCAPER	Deletion	Schizophrenia	GUncertain significance
Select item 1676478	NM_020843.4(SCAPER):c.42A>G (p.Val14=)	SCAPER	Single nucleotide variant	not provided	GUncertain significance
Select item 1327981	NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr)	LOC126862183, SCAPER (P1089T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 1325036	NM_020843.4(SCAPER):c.2955-1G>T	SCAPER	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1325035	NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs)	SCAPER (C742fs +4 more)	Microsatellite (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1184367	NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr)	SCAPER (I1022T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 815737	GRCh37/hg19 15q24.3(chr15:77001844-77112956)x1	SCAPER	Copy number loss	not provided	GLikely benign
Select item 800548	NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)	LOC126862183, SCAPER (P829fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 791406	NM_020843.4(SCAPER):c.3290A>G (p.Asn1097Ser)	LOC126862183, SCAPER (N969S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 756322	NM_020843.4(SCAPER):c.3109T>C (p.Leu1037=)	LOC126862183, SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 685869	GRCh37/hg19 15q24.3(chr15:76798898-77110524)x1	SCAPER	Copy number loss	not provided	GUncertain significance
Select item 443179	GRCh37/hg19 15q24.3(chr15:76760890-77001845)x1	SCAPER	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 27