57534[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 507

<< First< Prev

Page of 6

	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 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 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 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 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 1205550	NM_020774.4(MIB1):c.-588G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 683638	NM_020774.4(MIB1):c.-425G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 668990	NM_020774.4(MIB1):c.-298G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1691591	NM_020774.4(MIB1):c.-281C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 517912	NM_020774.4(MIB1):c.-49_-41dup	LOC130062254, MIB1	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 422751	NM_020774.4(MIB1):c.-46GGC[1]	LOC130062254, MIB1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 506384	NM_020774.4(MIB1):c.-46G>A	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1284538	NM_020774.4(MIB1):c.-17C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1173032	NM_020774.4(MIB1):c.-5C>T	LOC130062254, MIB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1200890	NM_020774.4(MIB1):c.4A>G (p.Ser2Gly)	LOC130062254, MIB1 (S2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726383	NM_020774.4(MIB1):c.9C>T (p.Asn3=)	LOC130062254, MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1769351	NM_020774.4(MIB1):c.12C>T (p.Ser4=)	LOC130062254, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773979	NM_020774.4(MIB1):c.14G>A (p.Arg5Gln)	LOC130062254, MIB1 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337284	NM_020774.4(MIB1):c.40del (p.Val14fs)	MIB1 (V14fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 222696	NM_020774.4(MIB1):c.37G>C (p.Gly13Arg)	MIB1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1736869	NM_020774.4(MIB1):c.39G>A (p.Gly13=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1737839	NM_020774.4(MIB1):c.40G>A (p.Val14Ile)	MIB1 (V14I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294699	NM_020774.4(MIB1):c.46G>T (p.Ala16Ser)	MIB1 (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704721	NM_020774.4(MIB1):c.60C>T (p.Arg20=)	MIB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2563676	NM_020774.4(MIB1):c.65C>T (p.Pro22Leu)	MIB1 (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1765793	NM_020774.4(MIB1):c.90C>T (p.Asp30=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227431	NM_020774.4(MIB1):c.93C>T (p.Gly31=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2448808	NM_020774.4(MIB1):c.96C>G (p.Gly32=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3365911	NM_020774.4(MIB1):c.100G>A (p.Gly34Ser)	MIB1 (G34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198230	NM_020774.4(MIB1):c.105T>C (p.His35=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3294702	NM_020774.4(MIB1):c.109G>T (p.Gly37Cys)	MIB1 (G37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677895	NM_020774.4(MIB1):c.109G>C (p.Gly37Arg)	MIB1 (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1744471	NM_020774.4(MIB1):c.118C>A (p.Arg40=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1757844	NM_020774.4(MIB1):c.123C>T (p.Ser41=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 392832	NM_020774.4(MIB1):c.127G>T (p.Glu43Ter)	MIB1 (E43*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 518270	NM_020774.4(MIB1):c.138G>A (p.Glu46=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1776788	NM_020774.4(MIB1):c.162C>T (p.Asn54=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778738	NM_020774.4(MIB1):c.171T>C (p.Ala57=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3064992	NM_020774.4(MIB1):c.178del (p.Tyr60fs)	LOC130062255, MIB1 (Y60fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 1208681	NM_020774.4(MIB1):c.180C>T (p.Tyr60=)	MIB1, LOC130062255	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 424108	NM_020774.4(MIB1):c.192G>T (p.Gly64=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175114	NM_020774.4(MIB1):c.198C>A (p.Tyr66Ter)	MIB1, LOC130062255 (Y66*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 390868	NM_020774.4(MIB1):c.201C>T (p.Asp67=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1785027	NM_020774.4(MIB1):c.204C>T (p.Leu68=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1786052	NM_020774.4(MIB1):c.210C>T (p.Ile70=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1787057	NM_020774.4(MIB1):c.216C>T (p.Asp72=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227414	NM_020774.4(MIB1):c.217A>G (p.Ser73Gly)	MIB1 (S73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788581	NM_020774.4(MIB1):c.225C>T (p.Pro75=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 514144	NM_020774.4(MIB1):c.228C>G (p.Thr76=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +2 more	GLikely benign
Select item 1803538	NM_020774.4(MIB1):c.229+3A>T	MIB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2577136	NM_020774.4(MIB1):c.229+7C>G	MIB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 507646	NM_020774.4(MIB1):c.229+14A>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203412	NM_020774.4(MIB1):c.229+229C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195783	NM_020774.4(MIB1):c.229+299T>G	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189649	NM_020774.4(MIB1):c.229+300C>A	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679092	NM_020774.4(MIB1):c.230-203G>C	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679561	NM_020774.4(MIB1):c.230-183C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679093	NM_020774.4(MIB1):c.230-29A>C	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284271	NM_020774.4(MIB1):c.230-13C>T	MIB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 511952	NM_020774.4(MIB1):c.230-6T>C	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1678441	NM_020774.4(MIB1):c.230-1G>A	MIB1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3294705	NM_020774.4(MIB1):c.252G>A (p.Met84Ile)	MIB1 (M84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1792930	NM_020774.4(MIB1):c.254G>A (p.Cys85Tyr)	MIB1 (C85Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677489	NM_020774.4(MIB1):c.255T>G (p.Cys85Trp)	MIB1 (C85W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418296	NM_020774.4(MIB1):c.265C>T (p.Arg89Cys)	MIB1 (R89C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1795658	NM_020774.4(MIB1):c.275C>G (p.Pro92Arg)	MIB1 (P92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563667	NM_020774.4(MIB1):c.284G>T (p.Gly95Val)	MIB1 (G95V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677569	NM_020774.4(MIB1):c.293G>A (p.Trp98Ter)	MIB1 (W98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3227427	NM_020774.4(MIB1):c.330A>G (p.Thr110=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3126083	NM_020774.4(MIB1):c.335G>A (p.Cys112Tyr)	MIB1 (C112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689427	NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)	MIB1 (C112F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 1677902	NM_020774.4(MIB1):c.338A>G (p.Tyr113Cys)	MIB1 (Y113C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276322	NM_020774.4(MIB1):c.365A>T (p.His122Leu)	MIB1 (H122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253570	NM_020774.4(MIB1):c.368G>A (p.Arg123His)	MIB1 (R123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1734472	NM_020774.4(MIB1):c.373T>C (p.Tyr125His)	MIB1 (Y125H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 222697	NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)	MIB1 (R126*)	Single nucleotide variant (nonsense)	not specified	GLikely benign
Select item 1735258	NM_020774.4(MIB1):c.381T>C (p.Ile127=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2563673	NM_020774.4(MIB1):c.384T>C (p.Thr128=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3294710	NM_020774.4(MIB1):c.385A>G (p.Thr129Ala)	MIB1 (T129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310092	NM_020774.4(MIB1):c.388C>T (p.Pro130Ser)	MIB1 (P130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3294711	NM_020774.4(MIB1):c.390G>C (p.Pro130=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3227428	NM_020774.4(MIB1):c.390G>A (p.Pro130=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 679094	NM_020774.4(MIB1):c.401+28C>T	MIB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199040	NM_020774.4(MIB1):c.402-29A>C	MIB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2633962	NM_020774.4(MIB1):c.402-1G>A	MIB1	Single nucleotide variant (splice acceptor variant)	MIB1-related disorder	GUncertain significance
Select item 523929	NM_020774.4(MIB1):c.407del (p.Leu136fs)	MIB1 (L136fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 754052	NM_020774.4(MIB1):c.408G>A (p.Leu136=)	MIB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313972	NM_020774.4(MIB1):c.434A>G (p.Lys145Arg)	MIB1 (K145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 6