"GeneDx"[submitter] AND "SFTPA2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1258839	NM_001098668.4(SFTPA2):c.*152C>T	SFTPA2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3370674	NM_001098668.4(SFTPA2):c.697T>C (p.Trp233Arg)	SFTPA2 (W233R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227071	NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys)	SFTPA2 (Q223K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 985062	NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)	SFTPA2 (V178M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 227069	NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=)	SFTPA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1179817	NM_001098668.4(SFTPA2):c.371-19T>C	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276701	NM_001098668.4(SFTPA2):c.370+67C>G	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272507	NM_001098668.4(SFTPA2):c.292+97T>A	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233654	NM_001098668.4(SFTPA2):c.292+64A>G	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222989	NM_001098668.4(SFTPA2):c.292+47dup	SFTPA2	Duplication (intron variant)	not provided	GBenign
Select item 666638	NM_001098668.4(SFTPA2):c.282A>G (p.Arg94=)	SFTPA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 227067	NM_001098668.4(SFTPA2):c.271G>C (p.Ala91Pro)	SFTPA2 (A91P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1221874	NM_001098668.4(SFTPA2):c.173-59C>T	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286990	NM_001098668.4(SFTPA2):c.172+138G>C	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227066	NM_001098668.4(SFTPA2):c.26C>A (p.Thr9Asn)	SFTPA2 (T9N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1247340	NM_001098668.4(SFTPA2):c.-23-5G>A	SFTPA2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 1278406	NM_001098668.4(SFTPA2):c.-23-161G>A	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270227	NM_001098668.4(SFTPA2):c.-23-196G>A	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262778	NM_001098668.4(SFTPA2):c.-23-221T>C	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign