CSTF2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549382	NM_001325.3(CSTF2):c.25C>T (p.Pro9Ser)	CSTF2 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745214	NM_001325.3(CSTF2):c.147C>T (p.Tyr49=)	CSTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692386	NM_001325.3(CSTF2):c.149A>C (p.Asp50Ala)	CSTF2 (D50A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, x-linked 113	GPathogenic
Select item 716033	NM_001325.3(CSTF2):c.445-10A>G	CSTF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2241234	NM_001325.3(CSTF2):c.596C>T (p.Thr199Met)	CSTF2 (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364095	NM_001325.3(CSTF2):c.614C>T (p.Pro205Leu)	CSTF2 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363900	NM_001325.3(CSTF2):c.696G>C (p.Gln232His)	CSTF2 (Q232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078440	NM_001325.3(CSTF2):c.787G>A (p.Ala263Thr)	CSTF2 (A246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545950	NM_001325.3(CSTF2):c.989G>A (p.Arg330Gln)	CSTF2 (R313Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549621	NM_001325.3(CSTF2):c.1072C>T (p.His358Tyr)	CSTF2 (H358Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781552	NM_001325.3(CSTF2):c.1140C>T (p.Pro380=)	CSTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241604	NM_001325.3(CSTF2):c.1219C>T (p.Pro407Ser)	CSTF2 (P407S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078438	NM_001325.3(CSTF2):c.1280C>T (p.Ala427Val)	CSTF2 (A447V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272851	NM_001325.3(CSTF2):c.1312C>T (p.Arg438Cys)	CSTF2 (R438C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492157	NM_001325.3(CSTF2):c.1328G>A (p.Arg443His)	CSTF2 (R443H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661041	NM_001325.3(CSTF2):c.1344_1358del (p.432ARAME[4])	CSTF2	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3239337	NM_001325.3(CSTF2):c.1363A>G (p.Met455Val)	CSTF2 (M438V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250760	NM_001325.3(CSTF2):c.1475C>T (p.Ala492Val)	CSTF2 (A475V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078439	NM_001325.3(CSTF2):c.1510A>T (p.Met504Leu)	CSTF2 (M504L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance