ClinVar for Gene (Select 54414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167971	NM_017425.4(SPA17):c.151G>C (p.Glu51Gln)	SIAE, SPA17 (E51Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3044962	NM_170601.5(SIAE):c.255A>G (p.Val85=)	SIAE	Single nucleotide variant (synonymous variant)	SIAE-related disorder	GLikely benign
Select item 3037277	NM_170601.5(SIAE):c.873C>T (p.Cys291=)	SIAE	Single nucleotide variant (synonymous variant)	SIAE-related disorder	GLikely benign
Select item 3022166	NM_170601.5(SIAE):c.781A>G (p.Met261Val)	SIAE (M226V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019971	NM_170601.5(SIAE):c.1056_1069del (p.Asn352fs)	SIAE (N317fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3015495	NM_170601.5(SIAE):c.940C>G (p.Arg314Gly)	SIAE (R279G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013453	NM_170601.5(SIAE):c.866_868delinsTAT (p.Tyr289_Asn290delinsLeuTyr)	SIAE	Indel (missense variant)	not provided	GUncertain significance
Select item 3013452	NM_170601.5(SIAE):c.872_873delinsAT (p.Cys291Tyr)	SIAE (C291Y +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3012581	NM_170601.5(SIAE):c.1153G>A (p.Ala385Thr)	SIAE (A385T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011964	NM_170601.5(SIAE):c.810G>A (p.Leu270=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011118	NM_170601.5(SIAE):c.1200G>A (p.Lys400=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005864	NM_170601.5(SIAE):c.826T>C (p.Tyr276His)	SIAE (Y241H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003964	NM_170601.5(SIAE):c.621G>A (p.Leu207=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003122	NM_170601.5(SIAE):c.1107A>C (p.Arg369Ser)	SIAE (R369S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999652	NM_170601.5(SIAE):c.860A>G (p.Asp287Gly)	SIAE (D287G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999514	NM_170601.5(SIAE):c.818T>C (p.Val273Ala)	SIAE (V238A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997457	NM_170601.5(SIAE):c.1348A>T (p.Lys450Ter)	SIAE (K415* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2997056	NM_170601.5(SIAE):c.723-9T>C	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991842	NM_170601.5(SIAE):c.136G>C (p.Val46Leu)	SIAE (V11L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988291	NM_170601.5(SIAE):c.1247C>T (p.Ala416Val)	SIAE (A416V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983369	NM_170601.5(SIAE):c.185G>A (p.Arg62His)	SIAE (R62H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977264	NM_170601.5(SIAE):c.405+17C>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974749	NM_170601.5(SIAE):c.202A>G (p.Ile68Val)	SIAE (I33V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973988	NM_170601.5(SIAE):c.343G>A (p.Val115Ile)	SIAE (V115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972394	NM_170601.5(SIAE):c.864G>C (p.Leu288=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971483	NM_170601.5(SIAE):c.70A>T (p.Ile24Phe)	SIAE (I24F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2970914	NM_170601.5(SIAE):c.1443T>C (p.Ala481=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966668	NM_170601.5(SIAE):c.229+16T>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962788	NM_170601.5(SIAE):c.9G>A (p.Ala3=)	SIAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961958	NM_170601.5(SIAE):c.833G>A (p.Gly278Glu)	SIAE (G243E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959501	NM_170601.5(SIAE):c.1451C>T (p.Thr484Met)	SIAE (T449M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915242	NM_170601.5(SIAE):c.832+8T>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906065	NM_170601.5(SIAE):c.1135C>T (p.Arg379Ter)	SIAE (R344* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2904039	NM_170601.5(SIAE):c.657C>T (p.Gly219=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902856	NM_170601.5(SIAE):c.1022G>A (p.Trp341Ter)	SIAE (W306* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2899684	NM_170601.5(SIAE):c.50G>C (p.Trp17Ser)	SIAE (W17S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899167	NM_170601.5(SIAE):c.166A>G (p.Thr56Ala)	SIAE (T56A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896984	NM_170601.5(SIAE):c.440C>T (p.Ala147Val)	SIAE (A112V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882010	NM_170601.5(SIAE):c.117G>C (p.Gln39His)	SIAE (Q4H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880427	NM_170601.5(SIAE):c.1325C>T (p.Ser442Phe)	SIAE (S407F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878923	NM_170601.5(SIAE):c.1124+12T>A	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876838	NM_170601.5(SIAE):c.545-20T>C	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876513	NM_170601.5(SIAE):c.857C>A (p.Thr286Lys)	SIAE (T286K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870205	NM_170601.5(SIAE):c.742G>A (p.Val248Ile)	SIAE (V248I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869564	NM_170601.5(SIAE):c.175G>A (p.Val59Met)	SIAE (V59M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869554	NM_170601.5(SIAE):c.709G>A (p.Val237Ile)	SIAE (V202I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867992	NM_170601.5(SIAE):c.146dup (p.Phe50fs)	SIAE (F50fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2849772	NM_170601.5(SIAE):c.155C>T (p.Thr52Ile)	SIAE (T17I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849120	NM_170601.5(SIAE):c.514G>C (p.Val172Leu)	SIAE (V172L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846412	NM_170601.5(SIAE):c.1301del (p.Lys434fs)	SIAE (K399fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2845208	NM_170601.5(SIAE):c.894A>C (p.Glu298Asp)	SIAE (E263D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837508	NM_170601.5(SIAE):c.156A>C (p.Thr52=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836684	NM_170601.5(SIAE):c.1193G>T (p.Gly398Val)	SIAE (G398V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833330	NM_170601.5(SIAE):c.683C>T (p.Ser228Phe)	SIAE (S193F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827545	NM_170601.5(SIAE):c.1198A>G (p.Lys400Glu)	SIAE (K365E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818146	NM_170601.5(SIAE):c.759_761del (p.Lys253_His254delinsAsn)	SIAE	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2814741	NM_170601.5(SIAE):c.1125-7C>T	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814512	NM_170601.5(SIAE):c.921T>C (p.Gly307=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814459	NM_170601.5(SIAE):c.1110C>G (p.Asp370Glu)	SIAE (D370E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812849	NM_170601.5(SIAE):c.832+18T>A	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804501	NM_170601.5(SIAE):c.157C>A (p.Pro53Thr)	SIAE (P18T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802272	NM_170601.5(SIAE):c.722+11A>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798184	NM_170601.5(SIAE):c.950C>A (p.Pro317Gln)	SIAE (P317Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794371	NM_170601.5(SIAE):c.1078A>G (p.Met360Val)	SIAE (M325V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792715	NM_170601.5(SIAE):c.467C>T (p.Ser156Phe)	SIAE (S121F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791294	NM_170601.5(SIAE):c.965A>G (p.Gln322Arg)	SIAE (Q287R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790968	NM_170601.5(SIAE):c.1430C>T (p.Ala477Val)	SIAE (A442V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789937	NM_170601.5(SIAE):c.1321-18T>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789279	NM_170601.5(SIAE):c.406-13A>G	SIAE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2789040	NM_170601.5(SIAE):c.230-13G>A	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785923	NM_170601.5(SIAE):c.1479C>T (p.Pro493=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785451	NM_170601.5(SIAE):c.1365T>C (p.Ser455=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782739	NM_170601.5(SIAE):c.380G>A (p.Ser127Asn)	SIAE (S127N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779519	NM_170601.5(SIAE):c.855C>T (p.Asn285=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776953	NM_170601.5(SIAE):c.444A>G (p.Ala148=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770732	NM_170601.5(SIAE):c.40T>C (p.Leu14=)	SIAE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768185	NM_170601.5(SIAE):c.884C>T (p.Ala295Val)	SIAE (A295V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756777	NM_170601.5(SIAE):c.149del (p.Phe50fs)	SIAE (F15fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2754674	NM_170601.5(SIAE):c.285C>T (p.Phe95=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750239	NM_170601.5(SIAE):c.144G>T (p.Trp48Cys)	SIAE (W13C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750210	NM_170601.5(SIAE):c.1321-16A>G	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735784	NM_170601.5(SIAE):c.143G>A (p.Trp48Ter)	SIAE (W13* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2735783	NM_170601.5(SIAE):c.1178G>A (p.Arg393His)	SIAE (R358H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733038	NM_170601.5(SIAE):c.1322T>G (p.Ile441Ser)	SIAE (I406S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729056	NM_170601.5(SIAE):c.660G>T (p.Gly220=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717131	NM_170601.5(SIAE):c.808C>T (p.Leu270=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712259	NM_170601.5(SIAE):c.1321A>C (p.Ile441Leu)	SIAE (I406L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710895	NM_170601.5(SIAE):c.1101T>C (p.Cys367=)	SIAE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707400	NM_170601.5(SIAE):c.1520T>G (p.Ile507Ser)	SIAE (I507S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706165	NM_170601.5(SIAE):c.583G>A (p.Val195Met)	SIAE (V160M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705773	NM_170601.5(SIAE):c.405+14T>C	SIAE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705336	NM_170601.5(SIAE):c.278G>A (p.Gly93Glu)	SIAE (G58E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703953	NM_170601.5(SIAE):c.214G>A (p.Val72Met)	SIAE (V72M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700953	NM_170601.5(SIAE):c.611A>T (p.Tyr204Phe)	SIAE (Y169F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699109	NM_170601.5(SIAE):c.985A>C (p.Lys329Gln)	SIAE (K329Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697391	NM_170601.5(SIAE):c.928_950dup (p.Phe318fs)	SIAE (F318fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance

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