ClinVar for Gene (Select 6720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322603	NM_004176.5(SREBF1):c.1436G>C (p.Ser479Thr)	SREBF1 (S405T +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3322602	NM_004176.5(SREBF1):c.3035G>A (p.Arg1012His)	SREBF1 (R1010H +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3322601	NM_004176.5(SREBF1):c.383C>G (p.Pro128Arg)	SREBF1 (P128R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3322600	NM_004176.5(SREBF1):c.2771A>T (p.Lys924Met)	SREBF1 (K780M +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3322599	NM_004176.5(SREBF1):c.1828C>T (p.Arg610Trp)	SREBF1 (R536W +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3322598	NM_004176.5(SREBF1):c.496C>T (p.Pro166Ser)	SREBF1 (P196S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3322597	NM_004176.5(SREBF1):c.2350T>C (p.Trp784Arg)	SREBF1 (W778R +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3322596	NM_004176.5(SREBF1):c.344C>T (p.Ala115Val)	SREBF1 (A115V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3257593	NM_004176.5(SREBF1):c.1734C>T (p.Pro578=)	SREBF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3169912	NM_004176.5(SREBF1):c.90A>T (p.Glu30Asp)	SREBF1 (E30D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169911	NM_004176.5(SREBF1):c.425G>A (p.Gly142Glu)	SREBF1 (G142E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169910	NM_004176.5(SREBF1):c.3191G>A (p.Arg1064Gln)	SREBF1 (R1055Q +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169909	NM_004176.5(SREBF1):c.3137C>T (p.Ala1046Val)	SREBF1 (A1044V +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169908	NM_004176.5(SREBF1):c.3034C>A (p.Arg1012Ser)	SREBF1 (R1010S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169907	NM_004176.5(SREBF1):c.2875A>C (p.Thr959Pro)	SREBF1 (T832P +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169906	NM_004176.5(SREBF1):c.2845A>G (p.Ser949Gly)	SREBF1 (S947G +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169905	NM_004176.5(SREBF1):c.2596A>G (p.Thr866Ala)	SREBF1 (T722A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169904	NM_004176.5(SREBF1):c.2557C>T (p.Pro853Ser)	SREBF1 (P779S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169903	NM_004176.5(SREBF1):c.2287C>T (p.Leu763Phe)	SREBF1 (L636F +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169902	NM_004176.5(SREBF1):c.2197G>T (p.Ala733Ser)	SREBF1 (A659S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169901	NM_004176.5(SREBF1):c.2162C>T (p.Ala721Val)	SREBF1 (A647V +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169900	NM_004176.5(SREBF1):c.2128G>A (p.Val710Met)	SREBF1 (V723M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169899	NM_004176.5(SREBF1):c.194A>T (p.Asp65Val)	SREBF1 (D41V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169898	NM_004176.5(SREBF1):c.1675G>A (p.Val559Ile)	SREBF1 (V553I +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169897	NM_004176.5(SREBF1):c.1453C>T (p.Arg485Cys)	SREBF1 (R341C +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3169896	NM_004176.5(SREBF1):c.1348A>G (p.Ser450Gly)	SREBF1 (S306G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169895	NM_004176.5(SREBF1):c.1225A>G (p.Asn409Asp)	SREBF1 (N265D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169894	NM_004176.5(SREBF1):c.1208C>G (p.Ala403Gly)	SREBF1 (A401G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065078	NM_004176.5(SREBF1):c.91+1G>C	SREBF1	Single nucleotide variant (splice donor variant)	Hereditary mucoepithelial dysplasia	GLikely pathogenic
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2776144	NM_004176.5(SREBF1):c.2214+17_2214+18insGGGTTGGGGGGATGGCGGGAGTGGGGAGGGTGGGGGGATTGGGGGTGGGGGGGTGGGGCTGGGGGGTGGCAGGGGTGTGGGGTGGCGGGGGTGGGG	SREBF1	Microsatellite (intron variant)	not provided	GBenign
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
Select item 2647533	NM_004176.5(SREBF1):c.1473C>G (p.Cys491Trp)	SREBF1 (C347W +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2647532	NM_004176.5(SREBF1):c.2031C>T (p.His677=)	SREBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647531	NM_004176.5(SREBF1):c.2214+17_2214+18insGGGGATGGCGGGAGTGGGGAGGGTGGGGGGATTGGGGGTGGGGGGGT	SREBF1	Microsatellite (intron variant)	not provided	GBenign
Select item 2647530	NM_004176.5(SREBF1):c.2960A>G (p.Gln987Arg)	SREBF1 (Q1000R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2635633	NM_004176.5(SREBF1):c.1916T>A (p.Leu639His)	SREBF1 (L495H +10 more)	Single nucleotide variant (missense variant +1 more)	SREBF1-related disorder	GUncertain significance
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 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 2571735	NM_004176.5(SREBF1):c.2549C>T (p.Ala850Val)	SREBF1 (A706V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 2506633	NM_004176.5(SREBF1):c.545A>G (p.Gln182Arg)	SREBF1 (Q158R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2499590	NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)	SREBF1 (V725I +11 more)	Single nucleotide variant (missense variant +1 more)	Obesity +1 more	GConflicting classifications of pathogenicity
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2486885	NM_004176.5(SREBF1):c.1039A>C (p.Lys347Gln)	SREBF1 (K203Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 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 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 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 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +2 more	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 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 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 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 2384583	NM_004176.5(SREBF1):c.1970C>T (p.Ala657Val)	SREBF1 (A633V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2177720	NM_004176.5(SREBF1):c.1289C>A (p.Ser430Ter)	SREBF1 (S406* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1878917	NM_004176.5(SREBF1):c.3037G>A (p.Gly1013Ser)	SREBF1 (G1004S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic

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