"PreventionGenetics, part of Exact Sciences"[submitter] AND "PAFAH1B1" - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050319	NM_000430.4(PAFAH1B1):c.32+8T>G	PAFAH1B1	Single nucleotide variant (intron variant)	PAFAH1B1-related disorder	GLikely benign
Select item 256109	NM_000430.4(PAFAH1B1):c.118-14T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 256110	NM_000430.4(PAFAH1B1):c.192+43T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 256111	NM_000430.4(PAFAH1B1):c.192+49C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2633888	NM_000430.4(PAFAH1B1):c.193-1G>A	PAFAH1B1	Single nucleotide variant (splice acceptor variant)	PAFAH1B1-related disorder	GLikely pathogenic
Select item 3044714	NM_000430.4(PAFAH1B1):c.257_258insGTC (p.Gly86_Gln87insSer)	PAFAH1B1	Insertion (inframe insertion)	PAFAH1B1-related disorder	GUncertain significance
Select item 3061181	NM_000430.4(PAFAH1B1):c.559dup (p.Thr187fs)	PAFAH1B1 (T187fs)	Duplication (frameshift variant)	PAFAH1B1-related disorder	GLikely pathogenic
Select item 1579878	NM_000430.4(PAFAH1B1):c.567C>T (p.His189=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 159528	NM_000430.4(PAFAH1B1):c.568+27C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1356339	NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser)	PAFAH1B1 (N203S)	Single nucleotide variant (missense variant)	PAFAH1B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1406323	NM_000430.4(PAFAH1B1):c.646A>G (p.Ile216Val)	PAFAH1B1 (I216V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92999	NM_000430.4(PAFAH1B1):c.672-10A>C	PAFAH1B1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 159541	NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2023686	NM_000430.4(PAFAH1B1):c.774G>A (p.Val258=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 93000	NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	PAFAH1B1-related disorder +2 more	GBenign/Likely benign
Select item 92996	NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 42175	NM_000430.4(PAFAH1B1):c.*17C>T	PAFAH1B1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign