6694[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 332040	NM_004525.3(LRP2):c.*1381GATG[6]	LRP2	Microsatellite (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 332041	NM_004525.3(LRP2):c.*1386A>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332042	NM_004525.3(LRP2):c.*1373A>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 893331	NM_004525.3(LRP2):c.*1365A>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332043	NM_004525.3(LRP2):c.*1222C>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332044	NM_004525.3(LRP2):c.*1187T>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332045	NM_004525.3(LRP2):c.1130_1131insT	LRP2	Insertion (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332048	NM_004525.3(LRP2):c.1127_1129dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332047	NM_004525.3(LRP2):c.1128_1129dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332046	NM_004525.3(LRP2):c.*1129dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332049	NM_004525.3(LRP2):c.*1118T>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 332050	NM_004525.3(LRP2):c.*1107G>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 894169	NM_004525.3(LRP2):c.*1049G>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 894170	NM_004525.3(LRP2):c.*997T>C	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 894171	NM_004525.3(LRP2):c.*991C>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332051	NM_004525.3(LRP2):c.*962T>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332054	NM_004525.3(LRP2):c.908_910dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332053	NM_004525.3(LRP2):c.909_910dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332052	NM_004525.3(LRP2):c.*910dup	LRP2	Duplication (3 prime UTR variant)	Donnai-Barrow syndrome	GBenign
Select item 332055	NM_004525.3(LRP2):c.*910del	LRP2	Deletion (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332056	NM_004525.3(LRP2):c.*824G>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332057	NM_004525.3(LRP2):c.*739C>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 894172	NM_004525.3(LRP2):c.*632T>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332058	NM_004525.3(LRP2):c.*544T>C	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GBenign
Select item 894577	NM_004525.3(LRP2):c.*530C>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 332059	NM_004525.3(LRP2):c.*481A>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332060	NM_004525.3(LRP2):c.*444G>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 894578	NM_004525.3(LRP2):c.*407T>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 332061	NM_004525.3(LRP2):c.*378C>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 894579	NM_004525.3(LRP2):c.*310C>T	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332062	NM_004525.3(LRP2):c.*297A>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 332063	NM_004525.3(LRP2):c.*253T>C	LRP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 893152	NM_004525.3(LRP2):c.*162G>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332064	NM_004525.3(LRP2):c.*158T>C	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 893153	NM_004525.3(LRP2):c.*122A>G	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 332065	NM_004525.3(LRP2):c.*18G>A	LRP2	Single nucleotide variant (3 prime UTR variant)	Donnai-Barrow syndrome	GLikely benign
Select item 2903570	NM_004525.3(LRP2):c.13968G>A (p.Ter4656=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486903	NM_004525.3(LRP2):c.13967A>G (p.Ter4656Trp)	LRP2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2133123	NM_004525.3(LRP2):c.13965A>G (p.Val4655=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900944	NM_004525.3(LRP2):c.13963G>C (p.Val4655Leu)	LRP2 (V4655L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929761	NM_004525.3(LRP2):c.13942C>T (p.Leu4648Phe)	LRP2 (L4648F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332066	NM_004525.3(LRP2):c.13937C>T (p.Ala4646Val)	LRP2 (A4646V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1311447	NM_004525.3(LRP2):c.13936G>A (p.Ala4646Thr)	LRP2 (A4646T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 726833	NM_004525.3(LRP2):c.13935C>T (p.Thr4645=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder +1 more	GBenign/Likely benign
Select item 2194383	NM_004525.3(LRP2):c.13932C>G (p.Asp4644Glu)	LRP2 (D4644E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332067	NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	LRP2 (T4641S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1393607	NM_004525.3(LRP2):c.13919A>T (p.Asp4640Val)	LRP2 (D4640V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GUncertain significance
Select item 1418987	NM_004525.3(LRP2):c.13906T>A (p.Ser4636Thr)	LRP2 (S4636T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1960199	NM_004525.3(LRP2):c.13904A>G (p.Tyr4635Cys)	LRP2 (Y4635C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947153	NM_004525.3(LRP2):c.13904A>T (p.Tyr4635Phe)	LRP2 (Y4635F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007904	NM_004525.3(LRP2):c.13902C>A (p.Thr4634=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785014	NM_004525.3(LRP2):c.13902C>G (p.Thr4634=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2822268	NM_004525.3(LRP2):c.13896T>G (p.Thr4632=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027036	NM_004525.3(LRP2):c.13894A>C (p.Thr4632Pro)	LRP2 (T4632P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394583	NM_004525.3(LRP2):c.13891C>G (p.Pro4631Ala)	LRP2 (P4631A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135281	NM_004525.3(LRP2):c.13881G>A (p.Ser4627=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder +1 more	GLikely benign
Select item 2651519	NM_004525.3(LRP2):c.13880C>G (p.Ser4627Trp)	LRP2 (S4627W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646023	NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)	LRP2 (S4627L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1607213	NM_004525.3(LRP2):c.13875T>G (p.Pro4625=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857108	NM_004525.3(LRP2):c.13866G>A (p.Lys4622=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132758	NM_004525.3(LRP2):c.13861G>T (p.Ala4621Ser)	LRP2 (A4621S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374771	NM_004525.3(LRP2):c.13855C>T (p.Leu4619Phe)	LRP2 (L4619F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002948	NM_004525.3(LRP2):c.13854G>A (p.Ser4618=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405626	NM_004525.3(LRP2):c.13853C>T (p.Ser4618Leu)	LRP2 (S4618L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2532105	NM_004525.3(LRP2):c.13850C>T (p.Pro4617Leu)	LRP2 (P4617L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303325	NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu)	LRP2 (S4616L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1716040	NM_004525.3(LRP2):c.13843C>A (p.Pro4615Thr)	LRP2 (P4615T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603892	NM_004525.3(LRP2):c.13833G>A (p.Ala4611=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927427	NM_004525.3(LRP2):c.13832C>T (p.Ala4611Val)	LRP2 (A4611V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2844717	NM_004525.3(LRP2):c.13830T>A (p.Ala4610=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649479	NM_004525.3(LRP2):c.13830T>G (p.Ala4610=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2074924	NM_004525.3(LRP2):c.13820A>T (p.Glu4607Val)	LRP2 (E4607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469801	NM_004525.3(LRP2):c.13819G>C (p.Glu4607Gln)	LRP2 (E4607Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505644	NM_004525.3(LRP2):c.13813C>A (p.Gln4605Lys)	LRP2 (Q4605K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492994	NM_004525.3(LRP2):c.13812G>C (p.Glu4604Asp)	LRP2 (E4604D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1637673	NM_004525.3(LRP2):c.13809C>T (p.Asn4603=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416931	NM_004525.3(LRP2):c.13807A>G (p.Asn4603Asp)	LRP2 (N4603D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 332068	NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)	LRP2 (M4601I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2714417	NM_004525.3(LRP2):c.13801-4T>C	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818807	NM_004525.3(LRP2):c.13801-14C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295680	NM_004525.3(LRP2):c.13801-78A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2859483	NM_004525.3(LRP2):c.13800+20C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831257	NM_004525.3(LRP2):c.13800+20del	LRP2	Deletion (intron variant)	not provided	GLikely benign
Select item 2757717	NM_004525.3(LRP2):c.13800+20C>A	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826745	NM_004525.3(LRP2):c.13800+14A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997756	NM_004525.3(LRP2):c.13800+13A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654648	NM_004525.3(LRP2):c.13800+12C>A	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878182	NM_004525.3(LRP2):c.13800+10A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126312	NM_004525.3(LRP2):c.13800+8T>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591613	NM_004525.3(LRP2):c.13800+2T>C	LRP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1905495	NM_004525.3(LRP2):c.13800+1G>A	LRP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1390331	NM_004525.3(LRP2):c.13793A>T (p.Tyr4598Phe)	LRP2 (Y4598F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705649	NM_004525.3(LRP2):c.13767A>G (p.Gln4589=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743501	NM_004525.3(LRP2):c.13764A>G (p.Lys4588=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135485	NM_004525.3(LRP2):c.13757A>T (p.Lys4586Ile)	LRP2 (K4586I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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