ClinVar for Gene (Select 22937) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158279	NM_012235.4(SCAP):c.977C>T (p.Ser326Leu)	SCAP (S71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158278	NM_012235.4(SCAP):c.83C>G (p.Pro28Arg)	SCAP (P28R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3158277	NM_012235.4(SCAP):c.720C>A (p.Phe240Leu)	SCAP (F240L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158276	NM_012235.4(SCAP):c.593A>T (p.His198Leu)	SCAP (H198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158275	NM_012235.4(SCAP):c.537G>C (p.Gln179His)	SCAP (Q179H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158274	NM_012235.4(SCAP):c.3811G>A (p.Val1271Met)	SCAP (V1015M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158273	NM_012235.4(SCAP):c.3602G>A (p.Gly1201Asp)	SCAP (G1201D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158271	NM_012235.4(SCAP):c.3368C>T (p.Thr1123Met)	SCAP (T867M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158270	NM_012235.4(SCAP):c.3199G>A (p.Ala1067Thr)	SCAP (A1067T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158269	NM_012235.4(SCAP):c.3116C>T (p.Ala1039Val)	SCAP (A783V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158268	NM_012235.4(SCAP):c.3074T>C (p.Leu1025Pro)	SCAP (L769P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158267	NM_012235.4(SCAP):c.2845G>A (p.Glu949Lys)	SCAP (E693K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158266	NM_012235.4(SCAP):c.2777C>T (p.Ala926Val)	SCAP (A926V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158265	NM_012235.4(SCAP):c.2771G>T (p.Gly924Val)	SCAP (G668V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158264	NM_012235.4(SCAP):c.2767G>A (p.Glu923Lys)	SCAP (E667K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158263	NM_012235.4(SCAP):c.2753G>A (p.Arg918Gln)	SCAP (R918Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158262	NM_012235.4(SCAP):c.2573C>T (p.Pro858Leu)	SCAP (P602L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158261	NM_012235.4(SCAP):c.2572C>T (p.Pro858Ser)	SCAP (P858S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158260	NM_012235.4(SCAP):c.2512T>C (p.Ser838Pro)	SCAP (S582P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158259	NM_012235.4(SCAP):c.2416G>A (p.Gly806Arg)	SCAP (G806R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158258	NM_012235.4(SCAP):c.2138C>T (p.Ala713Val)	SCAP (A458V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158257	NM_012235.4(SCAP):c.2050C>T (p.Pro684Ser)	SCAP (P684S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158256	NM_012235.4(SCAP):c.2027G>A (p.Arg676His)	SCAP (R421H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158255	NM_012235.4(SCAP):c.1891C>T (p.Arg631Cys)	SCAP (R376C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158254	NM_012235.4(SCAP):c.1799G>A (p.Arg600His)	SCAP (R345H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158253	NM_012235.4(SCAP):c.1798C>T (p.Arg600Cys)	SCAP (R345C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158252	NM_012235.4(SCAP):c.1435G>A (p.Ala479Thr)	SCAP (A224T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158251	NM_012235.4(SCAP):c.1021C>G (p.Pro341Ala)	SCAP (P86A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062731	GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3	CSPG5, DHX30 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685916	GRCh37/hg19 3p21.31(chr3:47068320-47478497)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2653764	NM_012235.4(SCAP):c.1427G>A (p.Arg476Gln)	SCAP (R221Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653763	NM_012235.4(SCAP):c.1719G>A (p.Pro573=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653762	NM_012235.4(SCAP):c.2250C>T (p.Arg750=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653761	NM_012235.4(SCAP):c.3327G>A (p.Ser1109=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653760	NM_012235.4(SCAP):c.3360G>A (p.Gly1120=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623665	NM_012235.4(SCAP):c.2620A>G (p.Thr874Ala)	SCAP (T618A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608935	NM_012235.4(SCAP):c.340G>T (p.Val114Leu)	SCAP (V114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596413	NM_012235.4(SCAP):c.1436C>T (p.Ala479Val)	SCAP (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596199	NM_012235.4(SCAP):c.761G>A (p.Arg254His)	SCAP (R254H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2594892	NM_012235.4(SCAP):c.2707C>T (p.Arg903Cys)	SCAP (R647C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591357	NM_012235.4(SCAP):c.3200C>T (p.Ala1067Val)	SCAP (A811V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562056	NM_012235.4(SCAP):c.3454C>T (p.Arg1152Trp)	SCAP (R896W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550735	NM_012235.4(SCAP):c.1723C>T (p.Pro575Ser)	SCAP (P320S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542717	NM_012235.4(SCAP):c.3154G>A (p.Gly1052Ser)	SCAP (G796S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539680	NM_012235.4(SCAP):c.3299C>T (p.Thr1100Ile)	SCAP (T1100I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533108	NM_012235.4(SCAP):c.1465A>G (p.Thr489Ala)	SCAP (T489A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522256	NM_012235.4(SCAP):c.2282C>T (p.Ala761Val)	SCAP (A761V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488067	NM_012235.4(SCAP):c.2810C>T (p.Ser937Leu)	SCAP (S681L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477309	NM_012235.4(SCAP):c.3322G>A (p.Asp1108Asn)	SCAP (D1108N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477307	NM_012235.4(SCAP):c.1118T>C (p.Val373Ala)	SCAP (V373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468303	NM_012235.4(SCAP):c.1773G>C (p.Gln591His)	SCAP (Q591H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467001	NM_012235.4(SCAP):c.1904C>T (p.Thr635Met)	SCAP (T635M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463334	NM_012235.4(SCAP):c.3509C>A (p.Thr1170Asn)	SCAP (T914N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462968	NM_012235.4(SCAP):c.1688T>C (p.Val563Ala)	SCAP (V308A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461084	NM_012235.4(SCAP):c.3439G>A (p.Val1147Ile)	SCAP (V891I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456075	NM_012235.4(SCAP):c.1514G>A (p.Arg505His)	SCAP (R250H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426158	NC_000003.11:g.(?_47422587)_(47919033_?)dup	CSPG5, DHX30 +5 more	Duplication	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	CCR1, CCR2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2406618	NM_012235.4(SCAP):c.3052A>G (p.Lys1018Glu)	SCAP (K1018E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405532	NM_012235.4(SCAP):c.3377A>G (p.Tyr1126Cys)	SCAP (Y870C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401873	NM_012235.4(SCAP):c.3079G>T (p.Gly1027Cys)	SCAP (G1027C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395655	NM_012235.4(SCAP):c.3248C>T (p.Thr1083Ile)	SCAP (T1083I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387858	NM_012235.4(SCAP):c.3034G>A (p.Ala1012Thr)	SCAP (A1012T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373208	NM_012235.4(SCAP):c.557A>G (p.His186Arg)	SCAP (H186R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368588	NM_012235.4(SCAP):c.3457G>C (p.Val1153Leu)	SCAP (V1153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361876	NM_012235.4(SCAP):c.2818C>T (p.Pro940Ser)	SCAP (P684S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351586	NM_012235.4(SCAP):c.2819C>T (p.Pro940Leu)	SCAP (P684L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350829	NM_012235.4(SCAP):c.2431C>T (p.Arg811Cys)	SCAP (R811C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348464	NM_012235.4(SCAP):c.1778C>T (p.Ser593Leu)	SCAP (S338L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338210	NM_012235.4(SCAP):c.2166G>C (p.Leu722Phe)	SCAP (L467F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336335	NM_012235.4(SCAP):c.3373G>A (p.Val1125Met)	SCAP (V869M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335022	NM_012235.4(SCAP):c.1789T>A (p.Ser597Thr)	SCAP (S342T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332200	NM_012235.4(SCAP):c.2693G>A (p.Arg898Gln)	SCAP (R898Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311727	NM_012235.4(SCAP):c.231G>C (p.Glu77Asp)	SCAP (E77D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302176	NM_012235.4(SCAP):c.2135C>T (p.Ala712Val)	SCAP (A457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296065	NM_012235.4(SCAP):c.997C>T (p.Leu333Phe)	SCAP (L333F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290190	NM_012235.4(SCAP):c.3152G>A (p.Arg1051Gln)	SCAP (R1051Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286467	NM_012235.4(SCAP):c.1960G>A (p.Val654Ile)	SCAP (V399I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275845	NM_012235.4(SCAP):c.3750C>G (p.Ile1250Met)	SCAP (I994M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270230	NM_012235.4(SCAP):c.425G>A (p.Ser142Asn)	SCAP (S142N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269809	NM_012235.4(SCAP):c.594C>A (p.His198Gln)	SCAP (H198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268298	NM_012235.4(SCAP):c.3635A>G (p.Asn1212Ser)	SCAP (N1212S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263613	NM_012235.4(SCAP):c.1763C>T (p.Pro588Leu)	SCAP (P333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260686	NM_012235.4(SCAP):c.2800C>A (p.Arg934Ser)	SCAP (R678S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252277	NM_012235.4(SCAP):c.2507G>C (p.Arg836Pro)	SCAP (R580P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235082	NM_012235.4(SCAP):c.2957G>T (p.Ser986Ile)	SCAP (S986I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214028	NM_012235.4(SCAP):c.2215G>A (p.Gly739Arg)	SCAP (G484R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206789	NM_012235.4(SCAP):c.2782G>A (p.Val928Ile)	SCAP (V928I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205510	NM_012235.4(SCAP):c.1423G>A (p.Glu475Lys)	SCAP (E220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 790346	NM_012235.4(SCAP):c.3765C>T (p.Asn1255=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789983	NM_012235.4(SCAP):c.3534G>A (p.Leu1178=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786877	NM_012235.4(SCAP):c.1941-9C>T	SCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777773	NM_012235.4(SCAP):c.3576G>A (p.Lys1192=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772861	NM_012235.4(SCAP):c.3327G>T (p.Ser1109=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724329	NM_012235.4(SCAP):c.3660C>G (p.Gly1220=)	SCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686277	GRCh37/hg19 3p21.31(chr3:47068320-47472020)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 503595	GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3	PTPN23, SCAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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