"Ambry Genetics"[submitter] AND "SREBF1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2339738	NM_004176.5(SREBF1):c.3407T>G (p.Met1136Arg)	SREBF1 (M1009R +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510765	NM_004176.5(SREBF1):c.3253G>A (p.Glu1085Lys)	SREBF1 (E1079K +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2510820	NM_004176.5(SREBF1):c.3227A>G (p.Glu1076Gly)	SREBF1 (E1052G +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402083	NM_004176.5(SREBF1):c.3209A>G (p.Lys1070Arg)	SREBF1 (K1046R +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2545691	NM_004176.5(SREBF1):c.3202G>A (p.Gly1068Ser)	SREBF1 (G1098S +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364152	NM_004176.5(SREBF1):c.3187C>T (p.Arg1063Trp)	SREBF1 (R1054W +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234875	NM_004176.5(SREBF1):c.3097C>T (p.Arg1033Trp)	SREBF1 (R1009W +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558088	NM_004176.5(SREBF1):c.3085C>T (p.Arg1029Trp)	SREBF1 (R1029W +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276008	NM_004176.5(SREBF1):c.3067C>T (p.Arg1023Trp)	SREBF1 (R879W +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546187	NM_004176.5(SREBF1):c.2984C>T (p.Pro995Leu)	SREBF1 (P1008L +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402764	NM_004176.5(SREBF1):c.2978C>T (p.Pro993Leu)	SREBF1 (P1006L +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325411	NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp)	SREBF1 (R887W +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315602	NM_004176.5(SREBF1):c.2684A>G (p.Glu895Gly)	SREBF1 (E871G +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219881	NM_004176.5(SREBF1):c.2587A>G (p.Met863Val)	SREBF1 (M839V +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367307	NM_004176.5(SREBF1):c.2417G>A (p.Arg806Gln)	SREBF1 (R782Q +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530134	NM_004176.5(SREBF1):c.2401G>T (p.Val801Leu)	SREBF1 (V801L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255605	NM_004176.5(SREBF1):c.2322T>A (p.Asp774Glu)	SREBF1 (D647E +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360276	NM_004176.5(SREBF1):c.2215C>T (p.Arg739Cys)	SREBF1 (R612C +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384583	NM_004176.5(SREBF1):c.1970C>T (p.Ala657Val)	SREBF1 (A633V +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2352067	NM_004176.5(SREBF1):c.1942C>T (p.Arg648Trp)	SREBF1 (R521W +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338324	NM_004176.5(SREBF1):c.1921G>A (p.Val641Met)	SREBF1 (V635M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510707	NM_004176.5(SREBF1):c.1913G>A (p.Arg638His)	SREBF1 (R636H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603940	NM_004176.5(SREBF1):c.1757G>T (p.Arg586Leu)	SREBF1 (R442L +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391037	NM_004176.5(SREBF1):c.1585G>A (p.Val529Met)	SREBF1 (V385M +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2613925	NM_004176.5(SREBF1):c.1571G>C (p.Ser524Thr)	SREBF1 (S509T +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317132	NM_004176.5(SREBF1):c.1424C>T (p.Pro475Leu)	SREBF1 (P451L +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2545310	NM_004176.5(SREBF1):c.1421G>A (p.Arg474Gln)	SREBF1 (R450Q +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2322068	NM_004176.5(SREBF1):c.1420C>T (p.Arg474Trp)	SREBF1 (R400W +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486746	NM_004176.5(SREBF1):c.1351G>A (p.Gly451Ser)	SREBF1 (G307S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376546	NM_004176.5(SREBF1):c.1319C>G (p.Pro440Arg)	SREBF1 (P296R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486885	NM_004176.5(SREBF1):c.1039A>C (p.Lys347Gln)	SREBF1 (K203Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261784	NM_004176.5(SREBF1):c.1015A>G (p.Ile339Val)	SREBF1 (I195V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2363509	NM_004176.5(SREBF1):c.835G>A (p.Gly279Arg)	SREBF1 (G135R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262042	NM_004176.5(SREBF1):c.725C>A (p.Pro242His)	SREBF1 (P240H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549609	NM_004176.5(SREBF1):c.682A>G (p.Thr228Ala)	SREBF1 (T84A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325094	NM_004176.5(SREBF1):c.596T>G (p.Val199Gly)	SREBF1 (V229G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399811	NM_004176.5(SREBF1):c.538A>C (p.Asn180His)	SREBF1 (N210H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268823	NM_004176.5(SREBF1):c.516C>G (p.Phe172Leu)	SREBF1 (F148L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456489	NM_004176.5(SREBF1):c.499A>G (p.Ser167Gly)	SREBF1 (S197G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2557295	NM_004176.5(SREBF1):c.464C>T (p.Pro155Leu)	SREBF1 (P131L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456472	NM_004176.5(SREBF1):c.457G>A (p.Ala153Thr)	SREBF1 (A153T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318709	NM_004176.5(SREBF1):c.290T>C (p.Leu97Pro)	SREBF1 (L73P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2266413	NM_004176.5(SREBF1):c.278C>T (p.Ala93Val)	SREBF1 (A123V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292394	NM_004176.5(SREBF1):c.237G>T (p.Leu79Phe)	SREBF1 (L55F +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2519422	NM_004176.5(SREBF1):c.193G>A (p.Asp65Asn)	SREBF1 (D41N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2463939	NM_004176.5(SREBF1):c.170G>A (p.Gly57Glu)	SREBF1 (G57E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384280	NM_004176.5(SREBF1):c.161G>A (p.Ser54Asn)	SREBF1 (S30N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 47