MOCOS[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 393

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 154263	GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1	COSMOC, ELP2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1203579	NM_017947.4(MOCOS):c.-43G>T	MOCOS	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1258652	NM_017947.4(MOCOS):c.-24G>A	MOCOS	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1296803	NM_017947.4(MOCOS):c.-5G>A	MOCOS	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 2032938	NM_017947.4(MOCOS):c.4G>A (p.Ala2Thr)	MOCOS (A2T)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2082276	NM_017947.4(MOCOS):c.7G>C (p.Gly3Arg)	MOCOS (G3R)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2153025	NM_017947.4(MOCOS):c.8G>C (p.Gly3Ala)	MOCOS (G3A)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 654063	NM_017947.4(MOCOS):c.14C>T (p.Ala5Val)	MOCOS (A5V)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1168845	NM_017947.4(MOCOS):c.15G>A (p.Ala5=)	MOCOS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1432921	NM_017947.4(MOCOS):c.40A>T (p.Thr14Ser)	MOCOS (T14S)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 3008121	NM_017947.4(MOCOS):c.42del (p.Phe15fs)	MOCOS (F15fs)	Deletion (frameshift variant)	Xanthinuria type II	GPathogenic
Select item 2058957	NM_017947.4(MOCOS):c.47C>T (p.Ala16Val)	MOCOS (A16V)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1063664	NM_017947.4(MOCOS):c.49G>T (p.Gly17Cys)	MOCOS (G17C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1571443	NM_017947.4(MOCOS):c.54C>T (p.Ser18=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 1507742	NM_017947.4(MOCOS):c.61C>T (p.Pro21Ser)	MOCOS (P21S)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1168080	NM_017947.4(MOCOS):c.66C>A (p.Ser22Arg)	MOCOS (S22R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2189828	NM_017947.4(MOCOS):c.89A>G (p.Tyr30Cys)	MOCOS (Y30C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2258972	NM_017947.4(MOCOS):c.91G>C (p.Gly31Arg)	MOCOS (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1502809	NM_017947.4(MOCOS):c.91G>T (p.Gly31Cys)	MOCOS (G31C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2618006	NM_017947.4(MOCOS):c.98G>A (p.Gly33Asp)	MOCOS (G33D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416833	NM_017947.4(MOCOS):c.133C>T (p.Arg45Cys)	MOCOS (R45C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1461411	NM_017947.4(MOCOS):c.134G>A (p.Arg45His)	MOCOS (R45H)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1167027	NM_017947.4(MOCOS):c.142+11C>A	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 1589614	NM_017947.4(MOCOS):c.142+16_142+19dup	MOCOS	Duplication (intron variant)	Xanthinuria type II	GBenign/Likely benign
Select item 1168888	NM_017947.4(MOCOS):c.142+20T>C	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GBenign
Select item 1289610	NM_017947.4(MOCOS):c.142+105G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262514	NM_017947.4(MOCOS):c.143-270G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222575	NM_017947.4(MOCOS):c.143-194T>G	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661497	NM_017947.4(MOCOS):c.143-21_143-13del	MOCOS	Deletion (intron variant)	Xanthinuria type II	GBenign
Select item 2328629	NM_017947.4(MOCOS):c.163G>A (p.Ala55Thr)	MOCOS (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 253161	NM_017947.4(MOCOS):c.169G>C (p.Ala57Pro)	MOCOS (A57P)	Single nucleotide variant (missense variant)	Xanthinuria type II	GPathogenic
Select item 1543624	NM_017947.4(MOCOS):c.171C>T (p.Ala57=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2975216	NM_017947.4(MOCOS):c.204C>T (p.Phe68=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 728482	NM_017947.4(MOCOS):c.218T>C (p.Met73Thr)	MOCOS (M73T)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GLikely benign
Select item 3188350	NM_017947.4(MOCOS):c.227C>T (p.Thr76Ile)	MOCOS (T76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2066721	NM_017947.4(MOCOS):c.231T>C (p.Tyr77=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GUncertain significance
Select item 2904323	NM_017947.4(MOCOS):c.232+1G>A	MOCOS	Single nucleotide variant (splice donor variant)	Xanthinuria type II	GLikely pathogenic
Select item 1253576	NM_017947.4(MOCOS):c.232+62G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274870	NM_017947.4(MOCOS):c.232+70C>T	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229322	NM_017947.4(MOCOS):c.232+146C>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250017	NM_017947.4(MOCOS):c.232+268G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239466	NM_017947.4(MOCOS):c.233-185C>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226794	NM_017947.4(MOCOS):c.233-47G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251215	NM_017947.4(MOCOS):c.233-46C>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2029253	NM_017947.4(MOCOS):c.233-20T>G	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 2034883	NM_017947.4(MOCOS):c.233-12G>T	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 1641382	NM_017947.4(MOCOS):c.252C>T (p.Asn84=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 644865	NM_017947.4(MOCOS):c.277A>G (p.Thr93Ala)	MOCOS (T93A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2160062	NM_017947.4(MOCOS):c.289G>T (p.Val97Leu)	MOCOS (V97L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1439354	NM_017947.4(MOCOS):c.289G>C (p.Val97Leu)	MOCOS (V97L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433778	NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)	MOCOS (Y99C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1302894	NM_017947.4(MOCOS):c.299+94G>A	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179348	NM_017947.4(MOCOS):c.299+233C>G	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270618	NM_017947.4(MOCOS):c.300-297G>T	MOCOS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2824585	NM_017947.4(MOCOS):c.300-13G>A	MOCOS	Single nucleotide variant (intron variant)	Xanthinuria type II	GLikely benign
Select item 964373	NM_017947.4(MOCOS):c.300-1G>C	MOCOS	Single nucleotide variant (splice acceptor variant)	Xanthinuria type II	GLikely pathogenic
Select item 1014788	NM_017947.4(MOCOS):c.305T>A (p.Leu102Gln)	MOCOS (L102Q)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 536216	NM_017947.4(MOCOS):c.309G>A (p.Ala103=)	MOCOS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2059151	NM_017947.4(MOCOS):c.337A>G (p.Thr113Ala)	MOCOS (T113A)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 735591	NM_017947.4(MOCOS):c.354C>T (p.Ala118=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 1170432	NM_017947.4(MOCOS):c.359G>A (p.Ser120Asn)	MOCOS (S120N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1351013	NM_017947.4(MOCOS):c.362C>T (p.Thr121Met)	MOCOS (T121M)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1167334	NM_017947.4(MOCOS):c.363G>A (p.Thr121=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GBenign
Select item 2390939	NM_017947.4(MOCOS):c.386A>C (p.Glu129Ala)	MOCOS (E129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492509	NM_017947.4(MOCOS):c.401T>C (p.Val134Ala)	MOCOS (V134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1448444	NM_017947.4(MOCOS):c.408G>C (p.Gln136His)	MOCOS (Q136H)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 934577	NM_017947.4(MOCOS):c.413C>T (p.Pro138Leu)	MOCOS (P138L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1129148	NM_017947.4(MOCOS):c.431G>A (p.Arg144His)	MOCOS (R144H)	Single nucleotide variant (missense variant)	Xanthinuria type II	GLikely benign
Select item 1095327	NM_017947.4(MOCOS):c.432C>T (p.Arg144=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 1449065	NM_017947.4(MOCOS):c.442C>T (p.Leu148Phe)	MOCOS (L148F)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 1153578	NM_017947.4(MOCOS):c.447C>T (p.Thr149=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GLikely benign
Select item 1468591	NM_017947.4(MOCOS):c.448G>A (p.Asp150Asn)	MOCOS (D150N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1129487	NM_017947.4(MOCOS):c.456C>T (p.His152=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 2199898	NM_017947.4(MOCOS):c.462C>A (p.Ser154=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 736907	NM_017947.4(MOCOS):c.462C>T (p.Ser154=)	MOCOS	Single nucleotide variant (synonymous variant)	Xanthinuria type II	GLikely benign
Select item 1170695	NM_017947.4(MOCOS):c.475C>A (p.Arg159=)	MOCOS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2174886	NM_017947.4(MOCOS):c.481G>A (p.Val161Met)	MOCOS (V161M)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2636897	NM_017947.4(MOCOS):c.493del (p.Ala164_Ile165insTer)	MOCOS	Deletion (nonsense)	MOCOS-related disorder	GLikely pathogenic
Select item 1170696	NM_017947.4(MOCOS):c.509C>T (p.Thr170Ile)	MOCOS (T170I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 639841	NM_017947.4(MOCOS):c.512C>T (p.Pro171Leu)	MOCOS (P171L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance

<< First< Prev

Page of 4