ClinVar for Gene (Select 85378) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 2179

<< First< Prev

Page of 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377619	NM_020461.4(TUBGCP6):c.2321G>A (p.Arg774Gln)	TUBGCP6 (R774Q)	Single nucleotide variant (missense variant)	Microcephaly and chorioretinopathy 1	GUncertain significance
Select item 3371048	NM_020461.4(TUBGCP6):c.3977G>C (p.Gly1326Ala)	TUBGCP6 (G1326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366349	NM_020461.4(TUBGCP6):c.5444_5447dup (p.Tyr1816Ter)	TUBGCP6 (Y1816*)	Duplication (nonsense)	not specified	GUncertain significance
Select item 3362025	NM_020461.4(TUBGCP6):c.3979C>T (p.Pro1327Ser)	TUBGCP6 (P1327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339917	NM_020461.4(TUBGCP6):c.905+1G>C	TUBGCP6	Single nucleotide variant (splice donor variant)	Microcephaly and chorioretinopathy 1	GLikely pathogenic
Select item 3330264	NM_020461.4(TUBGCP6):c.4310C>T (p.Ser1437Phe)	TUBGCP6 (S1437F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330263	NM_020461.4(TUBGCP6):c.307C>T (p.Pro103Ser)	TUBGCP6 (P103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330262	NM_020461.4(TUBGCP6):c.3905C>A (p.Ser1302Tyr)	TUBGCP6 (S1302Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330261	NM_020461.4(TUBGCP6):c.5282G>C (p.Gly1761Ala)	TUBGCP6 (G1761A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330260	NM_020461.4(TUBGCP6):c.4519T>C (p.Phe1507Leu)	TUBGCP6 (F1507L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330259	NM_020461.4(TUBGCP6):c.4262G>A (p.Gly1421Asp)	TUBGCP6 (G1421D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330258	NM_020461.4(TUBGCP6):c.783G>C (p.Gln261His)	TUBGCP6 (Q261H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330257	NM_020461.4(TUBGCP6):c.1891GAG[1] (p.Glu632del)	TUBGCP6 (E632del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3330256	NM_020461.4(TUBGCP6):c.397T>C (p.Phe133Leu)	TUBGCP6 (F133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330255	NM_020461.4(TUBGCP6):c.3418G>A (p.Ala1140Thr)	TUBGCP6 (A1140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330254	NM_020461.4(TUBGCP6):c.4921C>T (p.Leu1641Phe)	TUBGCP6 (L1641F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252195	NM_020461.4(TUBGCP6):c.2701C>T (p.Pro901Ser)	TUBGCP6 (P901S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248132	NC_000022.10:g.(?_50657893)_(50664226_?)del	TUBGCP6	Deletion	not provided	GLikely pathogenic
Select item 3248131	NC_000022.10:g.(?_50667813)_(50682888_?)del	TUBGCP6	Deletion	not provided	GPathogenic
Select item 3184846	NM_020461.4(TUBGCP6):c.794A>G (p.Asn265Ser)	TUBGCP6 (N265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184845	NM_020461.4(TUBGCP6):c.572C>T (p.Pro191Leu)	TUBGCP6 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184844	NM_020461.4(TUBGCP6):c.4570C>A (p.Leu1524Met)	TUBGCP6 (L1524M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184843	NM_020461.4(TUBGCP6):c.4513G>T (p.Asp1505Tyr)	TUBGCP6 (D1505Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184841	NM_020461.4(TUBGCP6):c.4483C>T (p.His1495Tyr)	TUBGCP6 (H1495Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184840	NM_020461.4(TUBGCP6):c.4444G>A (p.Val1482Met)	TUBGCP6 (V1482M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184839	NM_020461.4(TUBGCP6):c.4240G>A (p.Gly1414Arg)	TUBGCP6 (G1414R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3184838	NM_020461.4(TUBGCP6):c.4153C>T (p.Pro1385Ser)	TUBGCP6 (P1385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184836	NM_020461.4(TUBGCP6):c.3909G>T (p.Gln1303His)	TUBGCP6 (Q1303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184835	NM_020461.4(TUBGCP6):c.3676G>A (p.Gly1226Arg)	TUBGCP6 (G1226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184834	NM_020461.4(TUBGCP6):c.3557A>G (p.Asn1186Ser)	TUBGCP6 (N1186S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184833	NM_020461.4(TUBGCP6):c.2905C>T (p.Pro969Ser)	TUBGCP6 (P969S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3184832	NM_020461.4(TUBGCP6):c.2719G>A (p.Glu907Lys)	TUBGCP6 (E907K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184831	NM_020461.4(TUBGCP6):c.2714G>A (p.Gly905Glu)	TUBGCP6 (G905E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184829	NM_020461.4(TUBGCP6):c.2182C>G (p.Leu728Val)	TUBGCP6 (L728V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184828	NM_020461.4(TUBGCP6):c.2149C>G (p.Gln717Glu)	TUBGCP6 (Q717E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069134	NC_000022.10:g.(50668007_50671744)_(50683453_?)dup	TUBGCP6	Duplication	not specified	GUncertain significance
Select item 3067677	NM_020461.4(TUBGCP6):c.3919A>G (p.Ser1307Gly)	TUBGCP6 (S1307G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3050512	NM_020461.4(TUBGCP6):c.3346A>C (p.Arg1116=)	TUBGCP6	Single nucleotide variant (synonymous variant)	TUBGCP6-related disorder	GLikely benign
Select item 3034150	NM_020461.4(TUBGCP6):c.501A>G (p.Glu167=)	TUBGCP6	Single nucleotide variant (synonymous variant)	TUBGCP6-related disorder	GLikely benign
Select item 3030027	NM_020461.4(TUBGCP6):c.4872C>T (p.Tyr1624=)	TUBGCP6	Single nucleotide variant (synonymous variant)	TUBGCP6-related disorder	GLikely benign
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 3011208	NM_020461.4(TUBGCP6):c.1341C>T (p.Val447=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005857	NM_020461.4(TUBGCP6):c.4626+17G>C	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001076	NM_020461.4(TUBGCP6):c.2155-13_2155-12del	TUBGCP6	Deletion (intron variant)	not provided	GLikely benign
Select item 3000331	NM_020461.4(TUBGCP6):c.693C>T (p.Gly231=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999952	NM_020461.4(TUBGCP6):c.1117-18T>C	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999932	NM_020461.4(TUBGCP6):c.4137C>T (p.Asp1379=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998713	NM_020461.4(TUBGCP6):c.5031G>C (p.Val1677=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998021	NM_020461.4(TUBGCP6):c.4368C>T (p.Ala1456=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993239	NM_020461.4(TUBGCP6):c.3882A>G (p.Gln1294=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992354	NM_020461.4(TUBGCP6):c.579C>T (p.Val193=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989489	NM_020461.4(TUBGCP6):c.5034G>A (p.Lys1678=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988799	NM_020461.4(TUBGCP6):c.1710A>G (p.Thr570=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986737	NM_020461.4(TUBGCP6):c.4556C>T (p.Ala1519Val)	TUBGCP6 (A1519V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985496	NM_020461.4(TUBGCP6):c.4955-19_4955-9dup	TUBGCP6	Duplication (intron variant)	not provided	GLikely benign
Select item 2983909	NM_020461.4(TUBGCP6):c.1101G>A (p.Thr367=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981425	NM_020461.4(TUBGCP6):c.3264C>T (p.Ile1088=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979743	NM_020461.4(TUBGCP6):c.5127C>T (p.Ile1709=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975784	NM_020461.4(TUBGCP6):c.2622G>A (p.Val874=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975643	NM_020461.4(TUBGCP6):c.1602-11C>T	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975592	NM_020461.4(TUBGCP6):c.2481C>A (p.Pro827=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974113	NM_020461.4(TUBGCP6):c.3829A>G (p.Met1277Val)	TUBGCP6 (M1277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974101	NM_020461.4(TUBGCP6):c.1170C>T (p.Pro390=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973128	NM_020461.4(TUBGCP6):c.1693+16T>C	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972894	NM_020461.4(TUBGCP6):c.1470C>T (p.Gly490=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972809	NM_020461.4(TUBGCP6):c.5369-6C>T	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971043	NM_020461.4(TUBGCP6):c.4852G>T (p.Glu1618Ter)	TUBGCP6 (E1618*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2970722	NM_020461.4(TUBGCP6):c.2073G>A (p.Gln691=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968563	NM_020461.4(TUBGCP6):c.1479C>T (p.Ala493=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967749	NM_020461.4(TUBGCP6):c.2871G>A (p.Leu957=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966320	NM_020461.4(TUBGCP6):c.4035G>A (p.Glu1345=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964778	NM_020461.4(TUBGCP6):c.4109-14T>G	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961174	NM_020461.4(TUBGCP6):c.5205C>T (p.Asn1735=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959449	NM_020461.4(TUBGCP6):c.4724C>T (p.Pro1575Leu)	TUBGCP6 (P1575L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957074	NM_020461.4(TUBGCP6):c.4818C>T (p.Tyr1606=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956690	NM_020461.4(TUBGCP6):c.1492-4G>T	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956423	NM_020461.4(TUBGCP6):c.2334A>G (p.Ala778=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913311	NM_020461.4(TUBGCP6):c.1074C>T (p.Asn358=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899658	NM_020461.4(TUBGCP6):c.4950C>T (p.Arg1650=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894050	NM_020461.4(TUBGCP6):c.237G>A (p.Val79=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892351	NM_020461.4(TUBGCP6):c.2601G>A (p.Gln867=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888931	NM_020461.4(TUBGCP6):c.4516_4520delinsGACTA (p.Tyr1506_Phe1507delinsAspTyr)	TUBGCP6	Indel (missense variant)	not provided	GUncertain significance
Select item 2886224	NM_020461.4(TUBGCP6):c.2067C>T (p.Asp689=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880273	NM_020461.4(TUBGCP6):c.1694-11C>A	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879305	NM_020461.4(TUBGCP6):c.4563G>A (p.Arg1521=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878936	NM_020461.4(TUBGCP6):c.2786T>C (p.Leu929Pro)	TUBGCP6 (L929P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878640	NM_020461.4(TUBGCP6):c.5168+15G>A	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875924	NM_020461.4(TUBGCP6):c.5169-4C>A	TUBGCP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874254	NM_020461.4(TUBGCP6):c.2610G>A (p.Lys870=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874054	NM_020461.4(TUBGCP6):c.4691A>G (p.Lys1564Arg)	TUBGCP6 (K1564R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872731	NM_020461.4(TUBGCP6):c.3234C>T (p.Asn1078=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872318	NM_020461.4(TUBGCP6):c.5352C>T (p.Ser1784=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870531	NM_020461.4(TUBGCP6):c.1884C>T (p.Phe628=)	TUBGCP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 22