ClinVar for MedGen (Select 120640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068557	NM_006580.4(CLDN16):c.574+2T>C	CLDN16	Single nucleotide variant (splice donor variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 3068335	NM_006580.4(CLDN16):c.77C>T (p.Thr26Ile)	CLDN16 (T26I)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 2585141	NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)	CLDN16 (S16F)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 1678754	NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)	CLDN16 (G163C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1406091	NM_006580.4(CLDN16):c.562T>C (p.Tyr188His)	CLDN16 (Y188H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339860	NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly)	CLDN16 (C50G)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	Gnot provided
Select item 1339859	GRCh37/hg19 3q28(chr3:190114218-190144769)x1	CLDN16	Copy number loss	Primary hypomagnesemia	Gnot provided
Select item 1324089	NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr)	CLDN16 (S165Y)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 1301688	NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile)	CLDN16 (L156I)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 1202638	NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn)	CLDN16 (D35N)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 1202637	NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro)	CLDN16 (L46P)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 1199406	NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln)	CLDN16 (R79Q)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GPathogenic
Select item 1028524	NM_006580.4(CLDN16):c.218-10G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 1028522	NM_006580.4(CLDN16):c.2T>C (p.Met1Thr)	CLDN16 (M1T)	Single nucleotide variant (missense variant +1 more)	Primary hypomagnesemia	GConflicting classifications of pathogenicity
Select item 983144	NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs)	CLDN16 (T95fs)	Insertion (frameshift variant)	Primary hypomagnesemia	GUncertain significance
Select item 976616	NM_006580.4(CLDN16):c.*868A>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 976579	NM_006580.4(CLDN16):c.*1156G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 976578	NM_006580.4(CLDN16):c.*1145A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 976577	NM_006580.4(CLDN16):c.*1022G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 974421	NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser)	CLDN16 (N153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 957227	NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro)	CLDN16 (S36P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 932893	NM_006580.4:c.(?_598)_(900_?)del	CLDN16	Deletion	Primary hypomagnesemia	GPathogenic
Select item 903127	NM_006580.4(CLDN16):c.99T>C (p.Ala33=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia	GUncertain significance
Select item 903126	NM_006580.4(CLDN16):c.22A>G (p.Ile8Val)	CLDN16 (I8V)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 902393	NM_006580.4(CLDN16):c.*2014T>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902392	NM_006580.4(CLDN16):c.*1952C>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GLikely benign
Select item 902391	NM_006580.4(CLDN16):c.*1883T>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902390	NM_006580.4(CLDN16):c.*1872C>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902389	NM_006580.4(CLDN16):c.*1833G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 902388	NM_006580.4(CLDN16):c.*1817T>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902387	NM_006580.4(CLDN16):c.*1812A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GLikely benign
Select item 902318	NM_006580.4(CLDN16):c.*769A>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902317	NM_006580.4(CLDN16):c.*586G>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902316	NM_006580.4(CLDN16):c.*541A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902315	NM_006580.4(CLDN16):c.*495A>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 902251	NM_006580.4(CLDN16):c.-116G>T	CLDN16	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 902250	NM_006580.4(CLDN16):c.-132G>A	CLDN16	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 902249	NM_006580.3(CLDN16):c.-41C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GLikely benign
Select item 902248	NM_006580.3(CLDN16):c.-155C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 900710	NM_006580.4(CLDN16):c.*1793G>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 900709	NM_006580.4(CLDN16):c.*1552T>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 900634	NM_006580.4(CLDN16):c.*493T>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 900633	NM_006580.4(CLDN16):c.*299A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 900632	NM_006580.4(CLDN16):c.*181C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GLikely benign
Select item 900562	NM_006580.3(CLDN16):c.-206G>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 899569	NM_006580.4(CLDN16):c.*1427A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 899568	NM_006580.4(CLDN16):c.*1234A>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 899505	NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr)	CLDN16 (A210T)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 899504	NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys)	CLDN16 (Y199C)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 899503	NM_006580.4(CLDN16):c.575-7C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 899502	NM_006580.4(CLDN16):c.564T>C (p.Tyr188=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia	GUncertain significance
Select item 899501	NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala)	CLDN16 (G180A)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GUncertain significance
Select item 899500	NM_006580.4(CLDN16):c.192C>T (p.Tyr64=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 872664	NM_006580.4(CLDN16):c.437G>A (p.Arg146His)	CLDN16 (R146H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802037	NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)	CLDN16 (G128R)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 734800	NM_006580.4(CLDN16):c.532T>C (p.Leu178=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GBenign/Likely benign
Select item 714260	NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp)	CLDN16 (A279D +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 713090	NM_006580.4(CLDN16):c.165T>C (p.Phe55=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 692157	NM_006580.4(CLDN16):c.217+5G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 560390	NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu)	CLDN16 (G201E +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GPathogenic
Select item 545703	NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)	CLDN16	Duplication (nonsense)	Primary hypomagnesemia	GLikely pathogenic
Select item 545702	NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)	CLDN16 (A139V +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GPathogenic
Select item 438693	NM_006580.4(CLDN16):c.468del (p.Gly157fs)	CLDN16 (G157fs)	Deletion (frameshift variant)	Primary hypomagnesemia	GPathogenic
Select item 344476	NM_006580.4(CLDN16):c.*2098T>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344475	NM_006580.4(CLDN16):c.*1779A>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344474	NM_006580.4(CLDN16):c.*1763T>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344473	NM_006580.4(CLDN16):c.*1733A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344472	NM_006580.4(CLDN16):c.*1559C>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344471	NM_006580.4(CLDN16):c.*1491A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344470	NM_006580.4(CLDN16):c.*1453G>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344469	NM_006580.4(CLDN16):c.*1377T>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344468	NM_006580.4(CLDN16):c.*1348A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344467	NM_006580.4(CLDN16):c.*1333A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344466	NM_006580.4(CLDN16):c.*1313G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344465	NM_006580.4(CLDN16):c.*1178C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GLikely benign
Select item 344464	NM_006580.4(CLDN16):c.*1170G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344463	NM_006580.4(CLDN16):c.*1117G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344462	NM_006580.4(CLDN16):c.*965G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344461	NM_006580.4(CLDN16):c.*907A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344460	NM_006580.4(CLDN16):c.*842C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344459	NM_006580.4(CLDN16):c.*794T>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344458	NM_006580.4(CLDN16):c.*768del	CLDN16	Deletion (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344457	NM_006580.4(CLDN16):c.*761A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344456	NM_006580.4(CLDN16):c.*724A>C	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344455	NM_006580.4(CLDN16):c.*249G>A	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344454	NM_006580.4(CLDN16):c.*243C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GBenign
Select item 344453	NM_006580.4(CLDN16):c.*204C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 344452	NM_006580.4(CLDN16):c.*74A>G	CLDN16	Single nucleotide variant (3 prime UTR variant)	Primary hypomagnesemia	GUncertain significance
Select item 344451	NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys)	CLDN16 (E294K +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 344450	NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys)	CLDN16 (Y277C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 344449	NM_006580.4(CLDN16):c.117G>A (p.Val39=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344448	NM_006580.4(CLDN16):c.114+13C>G	CLDN16	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344447	NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu)	CLDN16 (F85L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 344446	NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro)	CLDN16 (Q76P +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance
Select item 344445	NM_006580.4(CLDN16):c.-45G>C	CLDN16 (A56P)	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 344444	NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs)	CLDN16	Deletion (frameshift variant +1 more)	Primary hypomagnesemia	GUncertain significance
Select item 344443	NM_006580.3(CLDN16):c.-3A>T	CLDN16	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 344442	NM_006580.3(CLDN16):c.-5G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 344441	NM_006580.3(CLDN16):c.-6C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 344440	NM_006580.3(CLDN16):c.-82A>G	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance

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