27229[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 524

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 1188532	NM_001372080.1(ZSCAN29):c.-516C>G	LOC130056943, ZSCAN29 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1242749	NM_001372080.1(ZSCAN29):c.-560CCGGGG[7]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1237521	NM_001372080.1(ZSCAN29):c.-560CCGGGG[6]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1208069	NM_001372080.1(ZSCAN29):c.-560CCGGGG[10]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1197063	NM_001372080.1(ZSCAN29):c.-560CCGGGG[9]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1240667	NM_001372080.1(ZSCAN29):c.-560CCGGGG[4]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1196047	NM_001372080.1(ZSCAN29):c.-567T>C	TUBGCP4, ZSCAN29	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2880857	NM_014444.5(TUBGCP4):c.9C>T (p.His3=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375492	NM_014444.5(TUBGCP4):c.11A>C (p.Glu4Ala)	TUBGCP4 (E4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462703	NM_014444.5(TUBGCP4):c.17T>C (p.Leu6Pro)	TUBGCP4 (L6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581787	NM_014444.5(TUBGCP4):c.27G>C (p.Leu9=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012611	NM_014444.5(TUBGCP4):c.28A>G (p.Ser10Gly)	TUBGCP4 (S10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962819	NM_014444.5(TUBGCP4):c.30C>T (p.Ser10=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405933	NM_014444.5(TUBGCP4):c.31G>A (p.Gly11Arg)	TUBGCP4 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365407	NM_014444.5(TUBGCP4):c.40G>A (p.Gly14Arg)	TUBGCP4 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1420052	NM_014444.5(TUBGCP4):c.41G>C (p.Gly14Ala)	TUBGCP4 (G14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674788	NM_014444.5(TUBGCP4):c.51C>T (p.Phe17=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007726	NM_014444.5(TUBGCP4):c.56G>A (p.Trp19Ter)	TUBGCP4 (W19*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2874210	NM_014444.5(TUBGCP4):c.72C>T (p.Gly24=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905237	NM_014444.5(TUBGCP4):c.78+13G>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180892	NM_014444.5(TUBGCP4):c.79-66G>A	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111739	NM_014444.5(TUBGCP4):c.79-20C>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700720	NM_014444.5(TUBGCP4):c.79-8T>C	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1001800	NM_014444.5(TUBGCP4):c.79G>A (p.Val27Ile)	TUBGCP4 (V27I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053427	NM_014444.5(TUBGCP4):c.80T>C (p.Val27Ala)	TUBGCP4 (V27A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132050	NM_014444.5(TUBGCP4):c.83C>G (p.Ser28Trp)	TUBGCP4 (S28W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 859722	NM_014444.5(TUBGCP4):c.83C>T (p.Ser28Leu)	TUBGCP4 (S28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731175	NM_014444.5(TUBGCP4):c.84G>T (p.Ser28=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080863	NM_014444.5(TUBGCP4):c.86A>G (p.Gln29Arg)	TUBGCP4 (Q29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487907	NM_014444.5(TUBGCP4):c.94C>T (p.Pro32Ser)	TUBGCP4 (P32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140160	NM_014444.5(TUBGCP4):c.102C>G (p.Leu34=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137236	NM_014444.5(TUBGCP4):c.102C>T (p.Leu34=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 944361	NM_014444.5(TUBGCP4):c.104A>G (p.His35Arg)	TUBGCP4 (H35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843108	NM_014444.5(TUBGCP4):c.109A>T (p.Ser37Cys)	TUBGCP4 (S37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085989	NM_014444.5(TUBGCP4):c.111T>C (p.Ser37=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111483	NM_014444.5(TUBGCP4):c.131G>A (p.Arg44Gln)	TUBGCP4 (R44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1999514	NM_014444.5(TUBGCP4):c.132A>T (p.Arg44=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795921	NM_014444.5(TUBGCP4):c.138C>T (p.Cys46=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014403	NM_014444.5(TUBGCP4):c.139C>T (p.Arg47Trp)	TUBGCP4 (R47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1952515	NM_014444.5(TUBGCP4):c.140G>A (p.Arg47Gln)	TUBGCP4 (R47Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927653	NM_014444.5(TUBGCP4):c.144C>G (p.Leu48=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947021	NM_014444.5(TUBGCP4):c.145G>C (p.Gly49Arg)	TUBGCP4 (G49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749957	NM_014444.5(TUBGCP4):c.153C>T (p.Asp51=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393311	NM_014444.5(TUBGCP4):c.157A>G (p.Ile53Val)	TUBGCP4 (I53V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925893	NM_014444.5(TUBGCP4):c.160C>T (p.Arg54Cys)	TUBGCP4 (R54C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901870	NM_014444.5(TUBGCP4):c.161G>A (p.Arg54His)	TUBGCP4 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1160014	NM_014444.5(TUBGCP4):c.162C>T (p.Arg54=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839511	NM_014444.5(TUBGCP4):c.167C>T (p.Thr56Ile)	TUBGCP4 (T56I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1498029	NM_014444.5(TUBGCP4):c.170A>G (p.Glu57Gly)	TUBGCP4 (E57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039319	NM_014444.5(TUBGCP4):c.171G>C (p.Glu57Asp)	TUBGCP4 (E57D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938318	NM_014444.5(TUBGCP4):c.177T>C (p.Ile59=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488981	NM_014444.5(TUBGCP4):c.182A>T (p.Gln61Leu)	TUBGCP4 (Q61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327346	NM_014444.5(TUBGCP4):c.187A>G (p.Thr63Ala)	TUBGCP4 (T63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450950	NM_014444.5(TUBGCP4):c.188C>T (p.Thr63Met)	TUBGCP4 (T63M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2096513	NM_014444.5(TUBGCP4):c.189G>A (p.Thr63=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 853960	NM_014444.5(TUBGCP4):c.194A>G (p.His65Arg)	TUBGCP4 (H65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2997395	NM_014444.5(TUBGCP4):c.195T>C (p.His65=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814556	NM_014444.5(TUBGCP4):c.207+1G>A	TUBGCP4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2120762	NM_014444.5(TUBGCP4):c.207+13C>G	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004917	NM_014444.5(TUBGCP4):c.207+13C>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911226	NM_014444.5(TUBGCP4):c.207+15C>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925327	NM_014444.5(TUBGCP4):c.207+17G>C	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201696	NM_014444.5(TUBGCP4):c.207+104C>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768816	NM_014444.5(TUBGCP4):c.208-12G>A	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513700	NM_014444.5(TUBGCP4):c.208G>A (p.Asp70Asn)	TUBGCP4 (D70N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757298	NM_014444.5(TUBGCP4):c.216dup (p.Pro73fs)	TUBGCP4 (P73fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2188126	NM_014444.5(TUBGCP4):c.222T>G (p.Ser74=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690472	NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter)	TUBGCP4 (Q75*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2049269	NM_014444.5(TUBGCP4):c.238G>A (p.Gly80Arg)	TUBGCP4 (G80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359246	NM_014444.5(TUBGCP4):c.257T>G (p.Leu86Arg)	TUBGCP4 (L86R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1605132	NM_014444.5(TUBGCP4):c.259C>A (p.Arg87=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166603	NM_014444.5(TUBGCP4):c.260G>A (p.Arg87Gln)	TUBGCP4 (R87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111102	NM_014444.5(TUBGCP4):c.267C>T (p.Phe89=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469464	NM_014444.5(TUBGCP4):c.272C>T (p.Thr91Ile)	TUBGCP4 (T91I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190126	NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs)	TUBGCP4 (Y100fs)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 3	GPathogenic
Select item 2083463	NM_014444.5(TUBGCP4):c.304C>T (p.Gln102Ter)	TUBGCP4 (Q102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1935955	NM_014444.5(TUBGCP4):c.306A>G (p.Gln102=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604431	NM_014444.5(TUBGCP4):c.309A>G (p.Ala103=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102482	NM_014444.5(TUBGCP4):c.309A>C (p.Ala103=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954007	NM_014444.5(TUBGCP4):c.312G>C (p.Leu104=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040759	NM_014444.5(TUBGCP4):c.330+5G>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1017264	NM_014444.5(TUBGCP4):c.330+6A>G	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1557031	NM_014444.5(TUBGCP4):c.330+9G>A	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528949	NM_014444.5(TUBGCP4):c.330+14G>A	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900649	NM_014444.5(TUBGCP4):c.330+18T>A	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639522	NM_014444.5(TUBGCP4):c.330+18T>C	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157069	NM_014444.5(TUBGCP4):c.331-16A>T	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1119607	NM_014444.5(TUBGCP4):c.331-13T>C	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091305	NM_014444.5(TUBGCP4):c.331-5T>G	TUBGCP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1299230	NM_014444.5(TUBGCP4):c.346del (p.His116fs)	TUBGCP4 (H116fs)	Deletion (frameshift variant)	Microcephaly and chorioretinopathy 3	GLikely pathogenic
Select item 1009263	NM_014444.5(TUBGCP4):c.343C>A (p.Pro115Thr)	TUBGCP4 (P115T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2108390	NM_014444.5(TUBGCP4):c.347A>T (p.His116Leu)	TUBGCP4 (H116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524490	NM_014444.5(TUBGCP4):c.347A>G (p.His116Arg)	TUBGCP4 (H116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085515	NM_014444.5(TUBGCP4):c.355A>G (p.Ile119Val)	TUBGCP4 (I119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971756	NM_014444.5(TUBGCP4):c.357A>G (p.Ile119Met)	TUBGCP4 (I119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352509	NM_014444.5(TUBGCP4):c.362A>G (p.His121Arg)	TUBGCP4 (H121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 791098	NM_014444.5(TUBGCP4):c.368A>G (p.Asn123Ser)	TUBGCP4 (N123S)	Single nucleotide variant (missense variant)	TUBGCP4-related condition +3 more	GBenign/Likely benign
Select item 1907624	NM_014444.5(TUBGCP4):c.372C>T (p.Tyr124=)	TUBGCP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 6