PRPF38B[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 2397997	NM_018061.4(PRPF38B):c.65C>T (p.Ala22Val)	PRPF38B (A22V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489828	NM_018061.4(PRPF38B):c.314A>G (p.Lys105Arg)	PRPF38B (K105R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244476	NM_018061.4(PRPF38B):c.517G>A (p.Asp173Asn)	PRPF38B (D62N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602941	NM_018061.4(PRPF38B):c.820A>G (p.Arg274Gly)	PRPF38B (R129G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387415	NM_018061.4(PRPF38B):c.943C>T (p.Arg315Trp)	PRPF38B (R131W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407404	NM_018061.4(PRPF38B):c.967C>T (p.Arg323Trp)	PRPF38B (R141W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780084	NM_018061.4(PRPF38B):c.1055G>A (p.Arg352Lys)	PRPF38B (R155K +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2552278	NM_018061.4(PRPF38B):c.1066A>G (p.Arg356Gly)	PRPF38B (R172G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489441	NM_018061.4(PRPF38B):c.1097G>A (p.Arg366Gln)	PRPF38B (R182Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359765	NM_018061.4(PRPF38B):c.1103G>A (p.Arg368His)	PRPF38B (R223H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610901	NM_018061.4(PRPF38B):c.1107C>G (p.Asp369Glu)	PRPF38B (D224E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288288	NM_018061.4(PRPF38B):c.1108T>A (p.Tyr370Asn)	PRPF38B (Y188N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246049	NM_018061.4(PRPF38B):c.1184G>A (p.Arg395Lys)	PRPF38B (R211K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623412	NM_018061.4(PRPF38B):c.1322G>A (p.Ser441Asn)	PRPF38B (S441N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 91998	NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln)	PRPF38B (R488Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617880	NM_018061.4(PRPF38B):c.1469A>G (p.His490Arg)	PRPF38B (H308R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225101	NM_018061.4(PRPF38B):c.1517G>A (p.Arg506His)	PRPF38B (R309H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329032	NM_018061.4(PRPF38B):c.1543A>G (p.Ser515Gly)	PRPF38B (S333G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478930	NM_018061.4(PRPF38B):c.1570C>G (p.Arg524Gly)	PRPF38B (R327G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454999	NM_018061.4(PRPF38B):c.1621A>G (p.Asn541Asp)	PRPF38B (N359D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301001	NM_018061.4(PRPF38B):c.1625A>T (p.Lys542Ile)	PRPF38B (K431I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523137	NM_018061.4(PRPF38B):c.1636G>C (p.Val546Leu)	PRPF38B (V364L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685814	GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	AKNAD1, EEIG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 41