"GeneDx"[submitter] AND "SF3B4"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297908	NC_000001.11:g.149923293T>C	SF3B4	Single nucleotide variant	not provided	GBenign
Select item 1695781	NM_005850.5(SF3B4):c.1168C>T (p.Arg390Ter)	SF3B4 (R390*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 419756	NM_005850.5(SF3B4):c.1153_1159dup (p.Gly387fs)	SF3B4 (G387fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 65407	NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)	SF3B4 (R336*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1274162	NM_005850.5(SF3B4):c.913+200A>T	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287020	NM_005850.5(SF3B4):c.913+95_913+100del	SF3B4	Deletion (intron variant)	not provided	GBenign
Select item 3253581	NM_005850.5(SF3B4):c.872C>G (p.Ser291Ter)	SF3B4 (S291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 446295	NM_005850.5(SF3B4):c.827del (p.Pro276fs)	SF3B4 (P276fs)	Deletion (frameshift variant)	Hereditary hearing loss and deafness +1 more	GPathogenic
Select item 280303	NM_005850.5(SF3B4):c.811del (p.Ala271fs)	SF3B4 (A271fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 451701	NM_005850.5(SF3B4):c.790C>A (p.Pro264Thr)	SF3B4 (P264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340592	NM_005850.5(SF3B4):c.737dup (p.Val247fs)	SF3B4 (V247fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1223891	NM_005850.5(SF3B4):c.707-32A>C	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237257	NM_005850.5(SF3B4):c.707-136A>G	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130291	NM_005850.5(SF3B4):c.682T>C (p.Leu228=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2444705	NM_005850.5(SF3B4):c.619C>T (p.Pro207Ser)	SF3B4 (P207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505865	NM_005850.5(SF3B4):c.514A>G (p.Ile172Val)	SF3B4 (I172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371613	NM_005850.5(SF3B4):c.361A>T (p.Ser121Cys)	SF3B4 (S121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506819	NM_005850.5(SF3B4):c.175G>C (p.Val59Leu)	SF3B4 (V59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228612	NM_005850.5(SF3B4):c.163+107C>G	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499948	NM_005850.5(SF3B4):c.125C>A (p.Thr42Asn)	SF3B4 (T42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273853	NM_005850.5(SF3B4):c.35-203C>T	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231681	NM_005850.4(SF3B4):c.-116C>T	LOC129931382, SF3B4	Single nucleotide variant	not provided	GBenign
Select item 1225359	NM_005850.4(SF3B4):c.-234T>C	SF3B4	Single nucleotide variant	not provided	GBenign
Select item 1242147	NM_005850.4(SF3B4):c.-297C>T	SF3B4	Single nucleotide variant	not provided	GBenign
Select item 1286950	NC_000001.11:g.149928372G>C	SF3B4	Single nucleotide variant	not provided	GBenign
Select item 3360201	NM_005850.5(SF3B4):c.1255C>T (p.Arg419Ter)	SF3B4 (R419*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 26