SRSF6[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2621929	NM_006275.6(SRSF6):c.17T>C (p.Ile6Thr)	SRSF6 (I6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264195	NM_006275.6(SRSF6):c.228T>G (p.Asp76Glu)	SRSF6 (D76E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170279	NM_006275.6(SRSF6):c.229C>T (p.Arg77Cys)	SRSF6 (R77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779389	NM_006275.6(SRSF6):c.382-7C>T	SRSF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 872203	NM_006275.6(SRSF6):c.414del (p.Thr137_Tyr138insTer)	SRSF6	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 2266478	NM_006275.6(SRSF6):c.511A>G (p.Ile171Val)	SRSF6 (I171V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322763	NM_006275.6(SRSF6):c.550C>T (p.Arg184Cys)	SRSF6 (R184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455997	NM_006275.6(SRSF6):c.551G>A (p.Arg184His)	SRSF6 (R184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731744	NM_006275.6(SRSF6):c.552C>T (p.Arg184=)	SRSF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3170280	NM_006275.6(SRSF6):c.572A>G (p.Tyr191Cys)	SRSF6 (Y191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170281	NM_006275.6(SRSF6):c.637C>T (p.Arg213Cys)	SRSF6 (R213C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516277	NM_006275.6(SRSF6):c.643A>G (p.Arg215Gly)	SRSF6 (R215G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537058	NM_006275.6(SRSF6):c.668G>A (p.Arg223His)	SRSF6 (R223H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454336	NM_006275.6(SRSF6):c.673C>T (p.Arg225Cys)	SRSF6 (R225C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533172	NM_006275.6(SRSF6):c.685C>T (p.Arg229Trp)	SRSF6 (R229W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531248	NM_006275.6(SRSF6):c.695G>A (p.Gly232Asp)	SRSF6 (G232D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170282	NM_006275.6(SRSF6):c.697C>G (p.Arg233Gly)	SRSF6 (R233G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322762	NM_006275.6(SRSF6):c.698G>A (p.Arg233Gln)	SRSF6 (R233Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469304	NM_006275.6(SRSF6):c.725A>G (p.Lys242Arg)	SRSF6 (K242R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322761	NM_006275.6(SRSF6):c.764G>A (p.Arg255Gln)	SRSF6 (R255Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514967	NM_006275.6(SRSF6):c.773A>G (p.His258Arg)	SRSF6 (H258R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170283	NM_006275.6(SRSF6):c.809A>C (p.Glu270Ala)	SRSF6 (E270A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170284	NM_006275.6(SRSF6):c.866T>C (p.Ile289Thr)	SRSF6 (I289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170277	NM_006275.6(SRSF6):c.1019C>T (p.Ser340Leu)	SRSF6 (S340L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547331	NM_006275.6(SRSF6):c.1025C>G (p.Ser342Cys)	SRSF6 (S342C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170278	NM_006275.6(SRSF6):c.1031A>G (p.Asp344Gly)	SRSF6 (D344G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687561	GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)x1	IFT52, L3MBTL1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 32