ClinVar for Gene (Select 90381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3456494	NM_152259.4(TICRR):c.4985C>G (p.Thr1662Arg)	KIF7, TICRR (T1661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456493	NM_152259.4(TICRR):c.1208C>T (p.Pro403Leu)	TICRR (P403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456492	NM_152259.4(TICRR):c.1340C>T (p.Ser447Phe)	TICRR (S447F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456491	NM_152259.4(TICRR):c.5020A>G (p.Ser1674Gly)	KIF7, TICRR (S1673G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456490	NM_152259.4(TICRR):c.4665C>G (p.Ser1555Arg)	KIF7, TICRR (S1555R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456489	NM_152259.4(TICRR):c.2701C>T (p.Pro901Ser)	TICRR (P900S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456488	NM_152259.4(TICRR):c.196C>G (p.Arg66Gly)	TICRR (R66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456487	NM_152259.4(TICRR):c.3337T>C (p.Ser1113Pro)	KIF7, TICRR (S1113P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456486	NM_152259.4(TICRR):c.2977C>G (p.Pro993Ala)	KIF7, TICRR (P993A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456484	NM_152259.4(TICRR):c.506A>G (p.Gln169Arg)	TICRR (Q169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456483	NM_152259.4(TICRR):c.1431G>T (p.Trp477Cys)	TICRR (W476C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456482	NM_152259.4(TICRR):c.85C>G (p.Arg29Gly)	LOC130057884, TICRR (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456481	NM_152259.4(TICRR):c.370C>G (p.Pro124Ala)	TICRR (P124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456480	NM_152259.4(TICRR):c.1267C>G (p.Arg423Gly)	TICRR (R423G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456479	NM_152259.4(TICRR):c.2548A>G (p.Arg850Gly)	TICRR (R849G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456478	NM_152259.4(TICRR):c.1012G>A (p.Val338Ile)	TICRR (V337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456477	NM_152259.4(TICRR):c.4696C>A (p.Gln1566Lys)	KIF7, TICRR (Q1565K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456476	NM_152259.4(TICRR):c.4695G>A (p.Met1565Ile)	KIF7, TICRR (M1564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456475	NM_152259.4(TICRR):c.3463G>A (p.Glu1155Lys)	KIF7, TICRR (E1155K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456473	NM_152259.4(TICRR):c.2108G>A (p.Arg703Gln)	TICRR (R702Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456472	NM_152259.4(TICRR):c.3310C>G (p.Gln1104Glu)	KIF7, TICRR (Q1103E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456471	NM_152259.4(TICRR):c.502C>A (p.Leu168Met)	TICRR (L168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456470	NM_152259.4(TICRR):c.404A>C (p.Asp135Ala)	TICRR (D135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456469	NM_152259.4(TICRR):c.2222A>G (p.Asp741Gly)	TICRR (D740G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456468	NM_152259.4(TICRR):c.3500C>T (p.Ser1167Leu)	KIF7, TICRR (S1167L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456467	NM_152259.4(TICRR):c.3533G>A (p.Arg1178Gln)	KIF7, TICRR (R1177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456466	NM_152259.4(TICRR):c.5101G>A (p.Gly1701Arg)	KIF7, TICRR (G1701R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456465	NM_152259.4(TICRR):c.4400T>G (p.Leu1467Arg)	KIF7, TICRR (L1466R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456464	NM_152259.4(TICRR):c.4313G>A (p.Arg1438Gln)	KIF7, TICRR (R1438Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3456462	NM_152259.4(TICRR):c.1677G>C (p.Lys559Asn)	TICRR (K559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456461	NM_152259.4(TICRR):c.3569C>T (p.Thr1190Met)	KIF7, TICRR (T1189M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456460	NM_152259.4(TICRR):c.3269G>A (p.Arg1090His)	KIF7, TICRR (R1089H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456459	NM_152259.4(TICRR):c.4085C>T (p.Pro1362Leu)	KIF7, TICRR (P1361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456458	NM_152259.4(TICRR):c.4694T>C (p.Met1565Thr)	KIF7, TICRR (M1564T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3456457	NM_152259.4(TICRR):c.2543G>A (p.Arg848His)	TICRR (R847H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326103	NM_152259.4(TICRR):c.869A>G (p.Tyr290Cys)	TICRR (Y290C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326102	NM_152259.4(TICRR):c.2200C>G (p.Pro734Ala)	TICRR (P733A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326101	NM_152259.4(TICRR):c.1327C>G (p.Arg443Gly)	TICRR (R442G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326100	NM_152259.4(TICRR):c.5347G>C (p.Ala1783Pro)	KIF7, TICRR (A1782P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326099	NM_152259.4(TICRR):c.3943C>G (p.Pro1315Ala)	KIF7, TICRR (P1315A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326098	NM_152259.4(TICRR):c.184G>C (p.Val62Leu)	TICRR (V62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326097	NM_152259.4(TICRR):c.4627C>G (p.Leu1543Val)	KIF7, TICRR (L1542V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326096	NM_152259.4(TICRR):c.3788A>G (p.Asn1263Ser)	KIF7, TICRR (N1263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326095	NM_152259.4(TICRR):c.1148G>A (p.Ser383Asn)	TICRR (S383N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326094	NM_152259.4(TICRR):c.1936C>T (p.Arg646Cys)	TICRR (R646C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326093	NM_152259.4(TICRR):c.812A>G (p.His271Arg)	TICRR (H271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326092	NM_152259.4(TICRR):c.4716A>C (p.Lys1572Asn)	KIF7, TICRR (K1572N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326091	NM_152259.4(TICRR):c.442G>T (p.Gly148Trp)	TICRR (G148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326088	NM_152259.4(TICRR):c.5015A>G (p.Lys1672Arg)	KIF7, TICRR (K1671R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326087	NM_152259.4(TICRR):c.426G>T (p.Glu142Asp)	TICRR (E142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326086	NM_152259.4(TICRR):c.5464G>T (p.Val1822Leu)	KIF7, TICRR (V1821L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326085	NM_152259.4(TICRR):c.2401G>T (p.Ala801Ser)	TICRR (A801S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326084	NM_152259.4(TICRR):c.4991G>C (p.Gly1664Ala)	KIF7, TICRR (G1664A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326083	NM_152259.4(TICRR):c.3187C>G (p.Arg1063Gly)	KIF7, TICRR (R1062G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326082	NM_152259.4(TICRR):c.821C>G (p.Pro274Arg)	TICRR (P274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326081	NM_152259.4(TICRR):c.1267C>T (p.Arg423Cys)	TICRR (R422C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326080	NM_152259.4(TICRR):c.2783C>T (p.Ser928Leu)	TICRR (S928L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326079	NM_152259.4(TICRR):c.2316A>T (p.Glu772Asp)	TICRR (E772D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3177404	NM_152259.4(TICRR):c.968C>A (p.Thr323Asn)	TICRR (T323N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177403	NM_152259.4(TICRR):c.958T>G (p.Trp320Gly)	TICRR (W319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177402	NM_152259.4(TICRR):c.904A>G (p.Met302Val)	TICRR (M302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177401	NM_152259.4(TICRR):c.862T>G (p.Leu288Val)	TICRR (L288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177400	NM_152259.4(TICRR):c.709C>G (p.His237Asp)	TICRR (H237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177399	NM_152259.4(TICRR):c.631G>A (p.Val211Met)	TICRR (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177396	NM_152259.4(TICRR):c.5422A>G (p.Ser1808Gly)	KIF7, TICRR (S1807G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177395	NM_152259.4(TICRR):c.5324G>C (p.Arg1775Thr)	KIF7, TICRR (R1774T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177394	NM_152259.4(TICRR):c.5198C>A (p.Pro1733His)	KIF7, TICRR (P1733H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177393	NM_152259.4(TICRR):c.4883G>A (p.Arg1628His)	KIF7, TICRR (R1628H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177392	NM_152259.4(TICRR):c.4867T>C (p.Ser1623Pro)	KIF7, TICRR (S1623P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177391	NM_152259.4(TICRR):c.4499C>T (p.Ser1500Phe)	KIF7, TICRR (S1499F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177389	NM_152259.4(TICRR):c.4498T>A (p.Ser1500Thr)	KIF7, TICRR (S1500T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177388	NM_152259.4(TICRR):c.4453G>A (p.Val1485Met)	KIF7, TICRR (V1484M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177387	NM_152259.4(TICRR):c.442G>C (p.Gly148Arg)	TICRR (G148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177386	NM_152259.4(TICRR):c.4403G>A (p.Ser1468Asn)	KIF7, TICRR (S1467N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177385	NM_152259.4(TICRR):c.4394C>G (p.Thr1465Ser)	KIF7, TICRR (T1464S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177384	NM_152259.4(TICRR):c.428C>A (p.Ala143Asp)	TICRR (A143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177382	NM_152259.4(TICRR):c.4045G>A (p.Val1349Ile)	KIF7, TICRR (V1348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177381	NM_152259.4(TICRR):c.395G>A (p.Arg132Lys)	TICRR (R132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177380	NM_152259.4(TICRR):c.3920C>T (p.Thr1307Met)	KIF7, TICRR (T1306M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177379	NM_152259.4(TICRR):c.3893C>T (p.Ser1298Leu)	KIF7, TICRR (S1298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177378	NM_152259.4(TICRR):c.3847A>C (p.Lys1283Gln)	KIF7, TICRR (K1283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177376	NM_152259.4(TICRR):c.3791A>G (p.Gln1264Arg)	KIF7, TICRR (Q1263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177375	NM_152259.4(TICRR):c.3680C>A (p.Ala1227Asp)	KIF7, TICRR (A1227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177374	NM_152259.4(TICRR):c.3627C>A (p.Asn1209Lys)	KIF7, TICRR (N1208K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177373	NM_152259.4(TICRR):c.3517A>G (p.Ile1173Val)	KIF7, TICRR (I1173V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177372	NM_152259.4(TICRR):c.3440C>G (p.Pro1147Arg)	KIF7, TICRR (P1147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177371	NM_152259.4(TICRR):c.3320A>C (p.Lys1107Thr)	KIF7, TICRR (K1107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177370	NM_152259.4(TICRR):c.3188G>T (p.Arg1063Leu)	KIF7, TICRR (R1062L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177369	NM_152259.4(TICRR):c.3113G>A (p.Arg1038Gln)	KIF7, TICRR (R1037Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177368	NM_152259.4(TICRR):c.3022A>G (p.Ile1008Val)	KIF7, TICRR (I1008V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177367	NM_152259.4(TICRR):c.2782T>C (p.Ser928Pro)	TICRR (S927P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177366	NM_152259.4(TICRR):c.2623C>A (p.Gln875Lys)	TICRR (Q875K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177365	NM_152259.4(TICRR):c.2392C>G (p.Gln798Glu)	TICRR (Q797E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177364	NM_152259.4(TICRR):c.1789G>C (p.Asp597His)	TICRR (D596H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177363	NM_152259.4(TICRR):c.1669A>C (p.Ser557Arg)	TICRR (S556R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177362	NM_152259.4(TICRR):c.1652T>C (p.Ile551Thr)	TICRR (I551T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177361	NM_152259.4(TICRR):c.1366A>G (p.Ile456Val)	TICRR (I456V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177360	NM_152259.4(TICRR):c.1144G>A (p.Val382Ile)	TICRR (V382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177359	NM_152259.4(TICRR):c.1115C>T (p.Ala372Val)	TICRR (A372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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