ClinVar for Gene (Select 26037) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162398	NM_001386936.1(SIPA1L1):c.969G>T (p.Arg323Ser)	SIPA1L1 (R323S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162397	NM_001386936.1(SIPA1L1):c.928T>G (p.Ser310Ala)	SIPA1L1 (S310A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162396	NM_001386936.1(SIPA1L1):c.673T>G (p.Leu225Val)	SIPA1L1 (L225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162395	NM_001386936.1(SIPA1L1):c.596G>T (p.Gly199Val)	SIPA1L1 (G199V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162394	NM_001386936.1(SIPA1L1):c.532A>G (p.Ile178Val)	SIPA1L1 (I178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162393	NM_001386936.1(SIPA1L1):c.497C>G (p.Ala166Gly)	SIPA1L1 (A166G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162392	NM_001386936.1(SIPA1L1):c.4670G>A (p.Arg1557Gln)	SIPA1L1 (R1578Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162391	NM_001386936.1(SIPA1L1):c.4589C>T (p.Thr1530Ile)	SIPA1L1 (T1036I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162390	NM_001386936.1(SIPA1L1):c.4426G>A (p.Val1476Met)	SIPA1L1 (V1476M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162389	NM_001386936.1(SIPA1L1):c.4270A>G (p.Lys1424Glu)	SIPA1L1 (K1424E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162388	NM_001386936.1(SIPA1L1):c.4250C>T (p.Thr1417Ile)	SIPA1L1 (T923I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162386	NM_001386936.1(SIPA1L1):c.4226A>G (p.His1409Arg)	SIPA1L1 (H1409R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162385	NM_001386936.1(SIPA1L1):c.4154C>T (p.Pro1385Leu)	SIPA1L1 (P1406L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162384	NM_001386936.1(SIPA1L1):c.4142C>G (p.Ala1381Gly)	SIPA1L1 (A1381G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162383	NM_001386936.1(SIPA1L1):c.4063A>T (p.Thr1355Ser)	SIPA1L1 (T861S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162381	NM_001386936.1(SIPA1L1):c.3761G>A (p.Gly1254Glu)	SIPA1L1 (G1254E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162380	NM_001386936.1(SIPA1L1):c.3647-465T>C	SIPA1L1 (F1228S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162379	NM_001386936.1(SIPA1L1):c.3533G>A (p.Ser1178Asn)	SIPA1L1 (S1178N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162378	NM_001386936.1(SIPA1L1):c.2740C>G (p.Leu914Val)	SIPA1L1 (L420V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162377	NM_001386936.1(SIPA1L1):c.2476A>G (p.Ile826Val)	SIPA1L1 (I332V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162376	NM_001386936.1(SIPA1L1):c.2279A>G (p.Asp760Gly)	SIPA1L1 (D266G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162375	NM_001386936.1(SIPA1L1):c.2233T>C (p.Cys745Arg)	SIPA1L1 (C745R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162374	NM_001386936.1(SIPA1L1):c.2111G>A (p.Arg704Gln)	SIPA1L1 (R704Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162373	NM_001386936.1(SIPA1L1):c.1754G>C (p.Cys585Ser)	SIPA1L1 (C91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162372	NM_001386936.1(SIPA1L1):c.128A>T (p.Asn43Ile)	SIPA1L1 (N43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162371	NM_001386936.1(SIPA1L1):c.118C>T (p.Arg40Trp)	SIPA1L1 (R40W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162370	NM_001386936.1(SIPA1L1):c.109C>T (p.Arg37Trp)	SIPA1L1 (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162369	NM_001386936.1(SIPA1L1):c.1052A>G (p.His351Arg)	SIPA1L1 (H351R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644355	NM_001386936.1(SIPA1L1):c.5298G>C (p.Ser1766=)	SIPA1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644354	NM_001386936.1(SIPA1L1):c.3576A>G (p.Ser1192=)	SIPA1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644353	NM_001386936.1(SIPA1L1):c.435G>A (p.Pro145=)	SIPA1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614223	NM_001386936.1(SIPA1L1):c.4060C>T (p.Arg1354Trp)	SIPA1L1 (R860W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608611	NM_001386936.1(SIPA1L1):c.4588A>G (p.Thr1530Ala)	SIPA1L1 (T1036A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607124	NM_001386936.1(SIPA1L1):c.452C>T (p.Ser151Phe)	SIPA1L1 (S151F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605853	NM_001386936.1(SIPA1L1):c.4471G>A (p.Glu1491Lys)	SIPA1L1 (E997K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593621	NM_001386936.1(SIPA1L1):c.4442C>T (p.Thr1481Met)	SIPA1L1 (T987M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555195	NM_001386936.1(SIPA1L1):c.2566A>G (p.Met856Val)	SIPA1L1 (M856V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552872	NM_001386936.1(SIPA1L1):c.3396C>G (p.Ile1132Met)	SIPA1L1 (I1132M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547891	NM_001386936.1(SIPA1L1):c.3157G>A (p.Gly1053Ser)	SIPA1L1 (G1053S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534873	NM_001386936.1(SIPA1L1):c.2683G>A (p.Val895Met)	SIPA1L1 (V895M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531667	NM_001386936.1(SIPA1L1):c.2426G>A (p.Arg809His)	SIPA1L1 (R809H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522977	NM_001386936.1(SIPA1L1):c.2575A>G (p.Ile859Val)	SIPA1L1 (I859V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515144	NM_001386936.1(SIPA1L1):c.1771A>G (p.Asn591Asp)	SIPA1L1 (N591D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510973	NM_001386936.1(SIPA1L1):c.3439C>T (p.Arg1147Trp)	SIPA1L1 (R1147W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509634	NM_001386936.1(SIPA1L1):c.3125G>T (p.Arg1042Leu)	SIPA1L1 (R1042L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479929	NM_001386936.1(SIPA1L1):c.4243G>T (p.Val1415Phe)	SIPA1L1 (V1415F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479843	NM_001386936.1(SIPA1L1):c.805A>G (p.Arg269Gly)	SIPA1L1 (R269G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471900	NM_001386936.1(SIPA1L1):c.2357C>T (p.Ala786Val)	SIPA1L1 (A292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466419	NM_001386936.1(SIPA1L1):c.4492C>T (p.Arg1498Cys)	SIPA1L1 (R1004C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464300	NM_001386936.1(SIPA1L1):c.1156A>T (p.Met386Leu)	SIPA1L1 (M386L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461383	NM_001386936.1(SIPA1L1):c.4259G>A (p.Arg1420Gln)	SIPA1L1 (R1420Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459955	NM_001386936.1(SIPA1L1):c.3962C>T (p.Ser1321Leu)	SIPA1L1 (S1321L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454184	NM_001386936.1(SIPA1L1):c.4910G>A (p.Arg1637His)	SIPA1L1 (R1143H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409591	NM_001386936.1(SIPA1L1):c.2241C>A (p.Asp747Glu)	SIPA1L1 (D747E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406237	NM_001386936.1(SIPA1L1):c.5278G>A (p.Glu1760Lys)	SIPA1L1 (E1780K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405220	NM_001386936.1(SIPA1L1):c.632C>T (p.Ser211Leu)	SIPA1L1 (S211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401541	NM_001386936.1(SIPA1L1):c.17G>A (p.Arg6Gln)	SIPA1L1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400650	NM_001386936.1(SIPA1L1):c.3751A>T (p.Asn1251Tyr)	SIPA1L1 (N757Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369314	NM_001386936.1(SIPA1L1):c.2776G>T (p.Val926Leu)	SIPA1L1 (V432L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366559	NM_001386936.1(SIPA1L1):c.4667G>A (p.Arg1556Gln)	SIPA1L1 (R1577Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365697	NM_001386936.1(SIPA1L1):c.746C>T (p.Thr249Ile)	SIPA1L1 (T249I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362798	NM_001386936.1(SIPA1L1):c.4607G>A (p.Ser1536Asn)	SIPA1L1 (S1042N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357248	NM_001386936.1(SIPA1L1):c.1159G>A (p.Gly387Ser)	SIPA1L1 (G387S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354612	NM_001386936.1(SIPA1L1):c.281G>A (p.Ser94Asn)	SIPA1L1 (S94N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350226	NM_001386936.1(SIPA1L1):c.428C>G (p.Thr143Arg)	SIPA1L1 (T143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342264	NM_001386936.1(SIPA1L1):c.1943G>A (p.Arg648Gln)	SIPA1L1 (R154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333902	NM_001386936.1(SIPA1L1):c.2249G>A (p.Cys750Tyr)	SIPA1L1 (C750Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327313	NM_001386936.1(SIPA1L1):c.859A>G (p.Lys287Glu)	SIPA1L1 (K287E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326145	NM_001386936.1(SIPA1L1):c.197C>A (p.Thr66Asn)	SIPA1L1 (T66N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323939	NM_001386936.1(SIPA1L1):c.3267G>T (p.Met1089Ile)	SIPA1L1 (M595I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323039	NM_001386936.1(SIPA1L1):c.3119C>G (p.Thr1040Ser)	SIPA1L1 (T546S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322186	NM_001386936.1(SIPA1L1):c.2603A>G (p.Tyr868Cys)	SIPA1L1 (Y374C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317022	NM_001386936.1(SIPA1L1):c.2713A>G (p.Ile905Val)	SIPA1L1 (I411V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296804	NM_001386936.1(SIPA1L1):c.4085G>T (p.Gly1362Val)	SIPA1L1 (G1383V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296731	NM_001386936.1(SIPA1L1):c.1523A>T (p.Asp508Val)	SIPA1L1 (D508V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295149	NM_001386936.1(SIPA1L1):c.401G>T (p.Ser134Ile)	SIPA1L1 (S134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293009	NM_001386936.1(SIPA1L1):c.113G>A (p.Arg38His)	SIPA1L1 (R38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287301	NM_001386936.1(SIPA1L1):c.1015A>G (p.Ile339Val)	SIPA1L1 (I339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272812	NM_001386936.1(SIPA1L1):c.3124C>T (p.Arg1042Cys)	SIPA1L1 (R548C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270899	NM_001386936.1(SIPA1L1):c.4622C>G (p.Ala1541Gly)	SIPA1L1 (A1047G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268819	NM_001386936.1(SIPA1L1):c.4622C>T (p.Ala1541Val)	SIPA1L1 (A1562V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265743	NM_001386936.1(SIPA1L1):c.2081C>T (p.Pro694Leu)	SIPA1L1 (P694L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263963	NM_001386936.1(SIPA1L1):c.4667G>T (p.Arg1556Leu)	SIPA1L1 (R1577L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262945	NM_001386936.1(SIPA1L1):c.2629C>G (p.Leu877Val)	SIPA1L1 (L383V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262147	NM_001386936.1(SIPA1L1):c.817A>G (p.Arg273Gly)	SIPA1L1 (R273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255756	NM_001386936.1(SIPA1L1):c.3703C>T (p.Pro1235Ser)	SIPA1L1 (P1256S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252836	NM_001386936.1(SIPA1L1):c.5095G>A (p.Ala1699Thr)	SIPA1L1 (A1205T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247663	NM_001386936.1(SIPA1L1):c.428C>T (p.Thr143Ile)	SIPA1L1 (T143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247496	NM_001386936.1(SIPA1L1):c.195A>G (p.Ile65Met)	SIPA1L1 (I65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245878	NM_001386936.1(SIPA1L1):c.2746A>G (p.Ile916Val)	SIPA1L1 (I422V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236201	NM_001386936.1(SIPA1L1):c.2935C>T (p.Pro979Ser)	SIPA1L1 (P485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233260	NM_001386936.1(SIPA1L1):c.5132A>G (p.Asp1711Gly)	SIPA1L1 (D1711G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229679	NM_001386936.1(SIPA1L1):c.4513C>T (p.Arg1505Trp)	SIPA1L1 (R1505W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227205	NM_001386936.1(SIPA1L1):c.4223G>A (p.Arg1408Gln)	SIPA1L1 (R914Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215306	NM_001386936.1(SIPA1L1):c.391A>G (p.Met131Val)	SIPA1L1 (M131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206909	NM_001386936.1(SIPA1L1):c.1772A>G (p.Asn591Ser)	SIPA1L1 (N97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340904	GRCh37/hg19 14q24.2(chr14:71941404-72026183)x1	SIPA1L1	Copy number loss	not provided	GUncertain significance
Select item 1302854	NM_001386936.1(SIPA1L1):c.879A>C (p.Ser293=)	SIPA1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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