ClinVar for Gene (Select 6429) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2602284	NM_005626.5(SRSF4):c.583C>T (p.Arg195Cys)	SRSF4 (R195C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558549	NM_005626.5(SRSF4):c.1367C>T (p.Ser456Leu)	SRSF4 (S456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525385	NM_005626.5(SRSF4):c.1186A>G (p.Lys396Glu)	SRSF4 (K396E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489746	NM_005626.5(SRSF4):c.538A>G (p.Arg180Gly)	SRSF4 (R180G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479111	NM_005626.5(SRSF4):c.845A>G (p.Asn282Ser)	SRSF4 (N282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384464	NM_005626.5(SRSF4):c.703C>T (p.Arg235Trp)	SRSF4 (R235W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374112	NM_005626.5(SRSF4):c.715C>T (p.Arg239Trp)	SRSF4 (R239W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370180	NM_005626.5(SRSF4):c.1293T>A (p.Ser431Arg)	SRSF4 (S431R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344840	NM_005626.5(SRSF4):c.1112G>A (p.Arg371His)	SRSF4 (R371H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814066	GRCh37/hg19 1p35.3-35.2(chr1:29293936-30478996)x1	MECR, EPB41 +3 more	Copy number loss	not provided	GUncertain significance
Select item 689267	GRCh37/hg19 1p35.3(chr1:29490892-29581035)x1	MECR, PTPRU +1 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
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
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20