ClinVar for Gene (Select 79991) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171472	NM_024928.5(STN1):c.970T>A (p.Phe324Ile)	STN1 (F324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171471	NM_024928.5(STN1):c.947A>G (p.Asn316Ser)	STN1 (N316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171470	NM_024928.5(STN1):c.922A>C (p.Ile308Leu)	STN1 (I308L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171468	NM_024928.5(STN1):c.754G>A (p.Val252Met)	STN1 (V252M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171467	NM_024928.5(STN1):c.712C>T (p.Leu238Phe)	STN1 (L238F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171466	NM_024928.5(STN1):c.416G>A (p.Arg139His)	STN1 (R139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171465	NM_024928.5(STN1):c.287C>G (p.Ser96Cys)	STN1 (S96C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171464	NM_024928.5(STN1):c.218A>G (p.Tyr73Cys)	STN1 (Y73C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171463	NM_024928.5(STN1):c.191T>C (p.Ile64Thr)	STN1 (I64T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3015397	NM_024928.5(STN1):c.453T>G (p.Thr151=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015299	NM_024928.5(STN1):c.447C>T (p.Ala149=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004039	NM_024928.5(STN1):c.592G>T (p.Ala198Ser)	STN1 (A198S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975254	NM_024928.5(STN1):c.754-4A>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969301	NM_024928.5(STN1):c.468C>T (p.Asp156=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963918	NM_024928.5(STN1):c.581+17C>A	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954809	NM_024928.5(STN1):c.133+18del	STN1	Deletion (intron variant)	not provided	GLikely benign
Select item 2906040	NM_024928.5(STN1):c.41C>T (p.Ser14Phe)	STN1 (S14F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898463	NM_024928.5(STN1):c.754-5T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875203	NM_024928.5(STN1):c.787A>G (p.Ile263Val)	STN1 (I263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865605	NM_024928.5(STN1):c.753+7G>A	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862321	NM_024928.5(STN1):c.133+10T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861281	NM_024928.5(STN1):c.229+19G>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835537	NM_024928.5(STN1):c.753+8C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833031	NM_024928.5(STN1):c.582-16A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814145	NM_024928.5(STN1):c.849A>G (p.Lys283=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813580	NM_024928.5(STN1):c.336A>G (p.Gln112=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812982	NM_024928.5(STN1):c.582-4_582-3insAAAACTTTCCCTCCGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCATTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	STN1	Insertion (intron variant)	not provided	GLikely benign
Select item 2810543	NM_024928.5(STN1):c.295+14C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794165	NM_024928.5(STN1):c.949+8G>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791757	NM_024928.5(STN1):c.1106G>A (p.Ter369=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2775971	NM_024928.5(STN1):c.950-14C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760155	NM_024928.5(STN1):c.12A>G (p.Gly4=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723275	NM_024928.5(STN1):c.82A>G (p.Lys28Glu)	STN1 (K28E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697180	NM_024928.5(STN1):c.811dup (p.Ile271fs)	STN1 (I271fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2640811	NM_024928.5(STN1):c.1107A>G (p.Ter369Trp)	STN1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2635973	NM_024928.5(STN1):c.419del (p.Thr140fs)	STN1 (T140fs)	Deletion (frameshift variant)	STN1-related condition	GUncertain significance
Select item 2631451	NM_024928.5(STN1):c.617G>A (p.Ser206Asn)	STN1 (S206N)	Single nucleotide variant (missense variant)	STN1-related condition	GUncertain significance
Select item 2631376	NM_024928.5(STN1):c.229+1G>A	STN1	Single nucleotide variant (splice donor variant)	STN1-related condition	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556879	NM_024928.5(STN1):c.378A>G (p.Ile126Met)	STN1 (I126M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552642	NM_024928.5(STN1):c.530T>C (p.Val177Ala)	STN1 (V177A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482569	NM_024928.5(STN1):c.514A>G (p.Thr172Ala)	STN1 (T172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467182	NM_024928.5(STN1):c.685C>G (p.Leu229Val)	STN1 (L229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426904	NC_000010.10:g.(?_105648810)_(105677352_?)del	STN1	Deletion	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2420888	NM_024928.5(STN1):c.1081A>G (p.Met361Val)	STN1 (M361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420811	NM_024928.5(STN1):c.356C>G (p.Thr119Ser)	STN1 (T119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414548	NM_024928.5(STN1):c.229+8C>A	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183317	NM_024928.5(STN1):c.817C>T (p.Leu273=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181104	NM_024928.5(STN1):c.591C>T (p.Gly197=)	STN1	Single nucleotide variant (synonymous variant)	STN1-related condition +1 more	GLikely benign
Select item 2178861	NM_024928.5(STN1):c.582-5C>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174016	NM_024928.5(STN1):c.149A>G (p.Asn50Ser)	STN1 (N50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2169393	NM_024928.5(STN1):c.718A>G (p.Asn240Asp)	STN1 (N240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168644	NM_024928.5(STN1):c.229+9A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168384	NM_024928.5(STN1):c.224dup (p.Tyr75Ter)	STN1 (Y75*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2164807	NM_024928.5(STN1):c.469G>A (p.Asp157Asn)	STN1 (D157N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157103	NM_024928.5(STN1):c.897C>A (p.Asp299Glu)	STN1 (D299E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139047	NM_024928.5(STN1):c.210T>G (p.Asp70Glu)	STN1 (D70E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134707	NM_024928.5(STN1):c.237C>T (p.Asp79=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128707	NM_024928.5(STN1):c.1051C>T (p.Leu351=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123114	NM_024928.5(STN1):c.582-10C>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110056	NM_024928.5(STN1):c.581+2dup	STN1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2103473	NM_024928.5(STN1):c.754-7T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100583	NM_024928.5(STN1):c.753+9A>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096468	NM_024928.5(STN1):c.615G>A (p.Thr205=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091393	NM_024928.5(STN1):c.295+9A>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089136	NM_024928.5(STN1):c.446C>A (p.Ala149Asp)	STN1 (A149D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088835	NM_024928.5(STN1):c.876+17T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083545	NM_024928.5(STN1):c.296-12A>G	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083296	NM_024928.5(STN1):c.592G>A (p.Ala198Thr)	STN1 (A198T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2068368	NM_024928.5(STN1):c.980T>C (p.Ile327Thr)	STN1 (I327T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044121	NM_024928.5(STN1):c.963C>T (p.Gly321=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038173	NM_024928.5(STN1):c.360T>G (p.Ile120Met)	STN1 (I120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029413	NM_024928.5(STN1):c.309A>G (p.Ala103=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024318	NM_024928.5(STN1):c.229+2T>C	STN1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2015763	NM_024928.5(STN1):c.876+6A>G	STN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2011901	NM_024928.5(STN1):c.1025C>T (p.Ala342Val)	STN1 (A342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009223	NM_024928.5(STN1):c.226G>A (p.Gly76Arg)	STN1 (G76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007657	NM_024928.5(STN1):c.255C>A (p.Asn85Lys)	STN1 (N85K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004072	NM_024928.5(STN1):c.133+8G>T	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000814	NM_024928.5(STN1):c.965G>A (p.Cys322Tyr)	STN1 (C322Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999364	NM_024928.5(STN1):c.196G>A (p.Val66Met)	STN1 (V66M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998346	NM_024928.5(STN1):c.424A>G (p.Arg142Gly)	STN1 (R142G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998091	NM_024928.5(STN1):c.1010C>G (p.Pro337Arg)	STN1 (P337R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980954	NM_024928.5(STN1):c.397C>T (p.Arg133Ter)	STN1 (R133*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1979102	NM_024928.5(STN1):c.719A>G (p.Asn240Ser)	STN1 (N240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978880	NM_024928.5(STN1):c.781A>G (p.Lys261Glu)	STN1 (K261E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975887	NM_024928.5(STN1):c.1015C>T (p.Leu339=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973868	NM_024928.5(STN1):c.582-15del	STN1	Deletion (intron variant)	not provided	GBenign
Select item 1972044	NM_024928.5(STN1):c.685C>A (p.Leu229Met)	STN1 (L229M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966274	NM_024928.5(STN1):c.949+14T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966048	NM_024928.5(STN1):c.261C>T (p.Ile87=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965789	NM_024928.5(STN1):c.420A>G (p.Thr140=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964054	NM_024928.5(STN1):c.1010C>T (p.Pro337Leu)	STN1 (P337L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960496	NM_024928.5(STN1):c.663G>T (p.Val221=)	STN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958183	NM_024928.5(STN1):c.707_716del (p.Leu236fs)	STN1 (L236fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1951340	NM_024928.5(STN1):c.229+11T>C	STN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948632	NM_024928.5(STN1):c.133+3A>G	STN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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