ClinVar for MedGen (Select 347406) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067923	NM_004525.3(LRP2):c.4103C>G (p.Pro1368Arg)	LRP2 (P1368R)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2443998	NM_004525.3(LRP2):c.1661C>A (p.Thr554Lys)	LRP2 (T554K)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2441245	NM_004525.3(LRP2):c.11868del (p.Trp3956fs)	LRP2 (W3956fs)	Deletion (frameshift variant)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 2433520	NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg)	LRP2 (M1615R)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2433519	NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp)	LRP2 (G1170D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 2433517	NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu)	LRP2 (V4253L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1934703	NM_004525.3(LRP2):c.10169+6T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1722403	NM_004525.3(LRP2):c.2006del (p.Gly669fs)	LRP2 (G669fs)	Deletion (frameshift variant)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 1708115	NM_004525.3(LRP2):c.3259G>A (p.Asp1087Asn)	LRP2 (D1087N)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GLikely benign
Select item 1708113	NM_004525.3(LRP2):c.10571+5G>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1696252	NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu)	LRP2 (S2714L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GUncertain significance
Select item 1684523	NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr)	LRP2 (C1394Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1684281	NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu)	LRP2 (P3077L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1684280	NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala)	LRP2 (V1203A)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1679714	NM_004525.3(LRP2):c.1709G>A (p.Arg570His)	LRP2 (R570H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1679713	NM_004525.3(LRP2):c.2263A>G (p.Ile755Val)	LRP2 (I755V)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 1677113	NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del	LRP2	Deletion	Donnai-Barrow syndrome	GLikely pathogenic
Select item 1670110	NM_004525.3(LRP2):c.80-14_80-11del	LRP2	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1667823	NM_004525.3(LRP2):c.7926T>G (p.Thr2642=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1667326	NM_004525.3(LRP2):c.923-19del	LRP2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1667169	NM_004525.3(LRP2):c.11451C>T (p.Cys3817=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1664015	NM_004525.3(LRP2):c.1593C>T (p.Ser531=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1660015	NM_004525.3(LRP2):c.10155C>T (p.His3385=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1659357	NM_004525.3(LRP2):c.1042+19C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1656698	NM_004525.3(LRP2):c.8508T>G (p.Ile2836Met)	LRP2 (I2836M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1655191	NM_004525.3(LRP2):c.652+14T>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1654325	NM_004525.3(LRP2):c.2076A>G (p.Thr692=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1653196	NM_004525.3(LRP2):c.7878G>A (p.Gln2626=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1652541	NM_004525.3(LRP2):c.13268-14A>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1652235	NM_004525.3(LRP2):c.12988+18T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1652168	NM_004525.3(LRP2):c.1342-13G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1650040	NM_004525.3(LRP2):c.11635+17C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	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 1648446	NM_004525.3(LRP2):c.975G>A (p.Pro325=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1648422	NM_004525.3(LRP2):c.12461+20C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1646023	NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)	LRP2 (S4627L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1645877	NM_004525.3(LRP2):c.13519-40CT[8]	LRP2	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1644770	NM_004525.3(LRP2):c.4691+16A>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1644257	NM_004525.3(LRP2):c.1043-19T>C	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1642913	NM_004525.3(LRP2):c.4755C>T (p.Asp1585=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1642908	NM_004525.3(LRP2):c.4294+20G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1640847	NM_004525.3(LRP2):c.8578+19C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1640377	NM_004525.3(LRP2):c.10572-13G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1638128	NM_004525.3(LRP2):c.3191-17G>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1637668	NM_004525.3(LRP2):c.13108+12G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1633175	NM_004525.3(LRP2):c.4524C>T (p.Ile1508=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1633021	NM_004525.3(LRP2):c.80-13T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1625406	NM_004525.3(LRP2):c.7716-13del	LRP2	Deletion (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 1624565	NM_004525.3(LRP2):c.1186A>G (p.Ile396Val)	LRP2 (I396V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1617959	NM_004525.3(LRP2):c.427+18C>T	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1614096	NM_004525.3(LRP2):c.10314A>G (p.Gly3438=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1613942	NM_004525.3(LRP2):c.13519-40CT[7]	LRP2	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1611194	NM_004525.3(LRP2):c.13620+16G>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1609945	NM_004525.3(LRP2):c.8831-16C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1605106	NM_004525.3(LRP2):c.13137C>G (p.Pro4379=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1602246	NM_004525.3(LRP2):c.8831-13G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1600437	NM_004525.3(LRP2):c.2117-20C>T	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 1598767	NM_004525.3(LRP2):c.7716-13dup	LRP2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1597370	NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile)	LRP2 (V1896I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1597214	NM_004525.3(LRP2):c.9312C>T (p.Ser3104=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1597081	NM_004525.3(LRP2):c.8505T>C (p.Cys2835=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related condition +2 more	GBenign/Likely benign
Select item 1595202	NM_004525.3(LRP2):c.3312C>T (p.His1104=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1594869	NM_004525.3(LRP2):c.246C>T (p.Pro82=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1593963	NM_004525.3(LRP2):c.378G>A (p.Arg126=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1592018	NM_004525.3(LRP2):c.9876T>C (p.Asp3292=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1590236	NM_004525.3(LRP2):c.12330T>A (p.Ser4110=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1588031	NM_004525.3(LRP2):c.11985C>T (p.Phe3995=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1583627	NM_004525.3(LRP2):c.5535C>A (p.Ile1845=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1582890	NM_004525.3(LRP2):c.6281-7C>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1581188	NM_004525.3(LRP2):c.13363T>C (p.Leu4455=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1580427	NM_004525.3(LRP2):c.10413C>T (p.Thr3471=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1579219	NM_004525.3(LRP2):c.428-18_428-8del	LRP2	Deletion (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1577819	NM_004525.3(LRP2):c.3333C>T (p.Asp1111=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1575236	NM_004525.3(LRP2):c.2909-19C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1574943	NM_004525.3(LRP2):c.80-10A>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1571145	NM_004525.3(LRP2):c.7515C>T (p.Arg2505=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1568287	NM_004525.3(LRP2):c.1975+19G>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1568034	NM_004525.3(LRP2):c.1827A>G (p.Leu609=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1566139	NM_004525.3(LRP2):c.13305C>T (p.Val4435=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1564428	NM_004525.3(LRP2):c.8005+14C>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 1563114	NM_004525.3(LRP2):c.13519-18T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1559954	NM_004525.3(LRP2):c.6057A>G (p.Ser2019=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1559248	NM_004525.3(LRP2):c.770-5C>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1548239	NM_004525.3(LRP2):c.1042+20G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1543289	NM_004525.3(LRP2):c.13410C>T (p.Pro4470=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1542959	NM_004525.3(LRP2):c.12989-10C>T	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1542379	NM_004525.3(LRP2):c.13728+12C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1537997	NM_004525.3(LRP2):c.3123T>C (p.Asn1041=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 1526144	NM_004525.3(LRP2):c.8244T>A (p.Cys2748Ter)	LRP2 (C2748*)	Single nucleotide variant (nonsense)	Donnai-Barrow syndrome	GPathogenic
Select item 1525317	NM_004525.3(LRP2):c.8123C>T (p.Ser2708Phe)	LRP2 (S2708F)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1524622	NM_004525.3(LRP2):c.6785G>T (p.Arg2262Leu)	LRP2 (R2262L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1524542	NM_004525.3(LRP2):c.2930C>A (p.Pro977His)	LRP2 (P977H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1524204	NM_004525.3(LRP2):c.7064A>G (p.His2355Arg)	LRP2 (H2355R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1522061	NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val)	LRP2 (A4413V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1521817	NM_004525.3(LRP2):c.2455C>T (p.Arg819Cys)	LRP2 (R819C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1521484	NM_004525.3(LRP2):c.3794C>T (p.Ala1265Val)	LRP2 (A1265V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1520809	NM_004525.3(LRP2):c.11590G>A (p.Asp3864Asn)	LRP2 (D3864N)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 1519941	NM_004525.3(LRP2):c.188C>T (p.Ala63Val)	LRP2 (A63V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1519746	NM_004525.3(LRP2):c.11014+4A>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1517418	NM_004525.3(LRP2):c.13433C>T (p.Thr4478Ile)	LRP2 (T4478I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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