CLDN16[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229364	NM_001378492.1(CLDN16):c.-93-707G>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281821	NM_001378492.1(CLDN16):c.-93-626A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286736	NM_001378492.1(CLDN16):c.-93-575C>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 900562	NM_006580.3(CLDN16):c.-206G>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 902248	NM_006580.3(CLDN16):c.-155C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 344439	NM_006580.3(CLDN16):c.-136T>C	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
Select item 902249	NM_006580.3(CLDN16):c.-41C>T	CLDN16	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 344441	NM_006580.3(CLDN16):c.-6C>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 344442	NM_006580.3(CLDN16):c.-5G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 344443	NM_006580.3(CLDN16):c.-3A>T	CLDN16	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1954153	NC_000003.12:g.190388141T>C	CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725530	NC_000003.12:g.190388146T>C	CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 344444	NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs)	CLDN16	Deletion (frameshift variant +1 more)	Primary hypomagnesemia	GUncertain significance
Select item 2068672	NM_006580.4(CLDN16):c.-149G>T	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 591491	NM_006580.4(CLDN16):c.-143_-141del	CLDN16	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3145473	NM_006580.4(CLDN16):c.-140A>G	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2216205	NM_006580.4(CLDN16):c.-134G>A	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 902250	NM_006580.4(CLDN16):c.-132G>A	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 902251	NM_006580.4(CLDN16):c.-116G>T	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1912714	NM_006580.4(CLDN16):c.-104C>T	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1468455	NM_006580.4(CLDN16):c.-98G>A	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 756062	NM_006580.4(CLDN16):c.-97C>T	CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1349356	NM_006580.4(CLDN16):c.-68C>A	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3145470	NM_006580.4(CLDN16):c.-65G>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1525707	NM_006580.4(CLDN16):c.-65G>A	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2304790	NM_006580.4(CLDN16):c.-63C>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2256859	NM_006580.4(CLDN16):c.-62A>G	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3145471	NM_006580.4(CLDN16):c.-47G>A	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 282608	NM_006580.4(CLDN16):c.-45del	CLDN16 (A56fs)	Deletion (5 prime UTR variant)	Primary hypomagnesemia +2 more	GBenign/Likely benign
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 2173439	NM_006580.4(CLDN16):c.-41G>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1994354	NM_006580.4(CLDN16):c.-41G>C	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2488831	NM_006580.4(CLDN16):c.-25C>G	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1433913	NM_006580.4(CLDN16):c.-23A>G	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 2975931	NM_006580.4(CLDN16):c.-18G>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2203471	NM_006580.4(CLDN16):c.1A>G (p.Met1Val)	CLDN16 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	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 5929	NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)	CLDN16 (M1R)	Single nucleotide variant (missense variant +1 more)	Primary hypomagnesemia	GPathogenic
Select item 1358884	NM_006580.4(CLDN16):c.4A>T (p.Arg2Trp)	CLDN16 (R2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019445	NM_006580.4(CLDN16):c.15T>C (p.Leu5=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2084957	NM_006580.4(CLDN16):c.19T>C (p.Tyr7His)	CLDN16 (Y7H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 903126	NM_006580.4(CLDN16):c.22A>G (p.Ile8Val)	CLDN16 (I8V)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 3054655	NM_006580.4(CLDN16):c.24C>T (p.Ile8=)	CLDN16	Single nucleotide variant (synonymous variant)	CLDN16-related disorder	GLikely benign
Select item 3145472	NM_006580.4(CLDN16):c.25G>C (p.Ala9Pro)	CLDN16 (A9P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2877133	NM_006580.4(CLDN16):c.39_50del (p.Phe14_Ala17del)	CLDN16	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2490131	NM_006580.4(CLDN16):c.37G>A (p.Ala13Thr)	CLDN16 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 344447	NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu)	CLDN16 (F85L +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GBenign
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 2734608	NM_006580.4(CLDN16):c.53G>A (p.Gly18Glu)	CLDN16 (G18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025771	NM_006580.4(CLDN16):c.62T>C (p.Ile21Thr)	CLDN16 (I21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930213	NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr)	CLDN16 (A23T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 2104280	NM_006580.4(CLDN16):c.73T>G (p.Trp25Gly)	CLDN16 (W25G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 422411	NM_006580.4(CLDN16):c.87G>C (p.Trp29Cys)	CLDN16 (W99C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267593	NM_006580.4(CLDN16):c.88A>G (p.Met30Val)	CLDN16 (M30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 903127	NM_006580.4(CLDN16):c.99T>C (p.Ala33=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia	GUncertain significance
Select item 1312719	NM_006580.4(CLDN16):c.100G>A (p.Asp34Asn)	CLDN16 (D34N)	Single nucleotide variant (missense variant)	not provided	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 957227	NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro)	CLDN16 (S36P)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GUncertain significance
Select item 2004866	NM_006580.4(CLDN16):c.114+7_114+9del	CLDN16	Microsatellite (intron variant)	not provided	GLikely benign
Select item 260004	NM_006580.4(CLDN16):c.114+10T>C	CLDN16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1268116	NM_006580.4(CLDN16):c.114+100T>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280834	NM_006580.4(CLDN16):c.114+120A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342118	NM_006580.4(CLDN16):c.115-30G>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743488	NM_006580.4(CLDN16):c.115-7C>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1202637	NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro)	CLDN16 (L46P)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 5937	NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter)	CLDN16 (W47*)	Single nucleotide variant (nonsense)	Primary hypomagnesemia	GPathogenic
Select item 3367125	NM_006580.4(CLDN16):c.148T>C (p.Cys50Arg)	CLDN16 (C50R)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	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 1311269	NM_006580.4(CLDN16):c.149G>A (p.Cys50Tyr)	CLDN16 (C50Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162124	NM_006580.4(CLDN16):c.150C>T (p.Cys50=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713090	NM_006580.4(CLDN16):c.165T>C (p.Phe55=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GBenign/Likely benign
Select item 738521	NM_006580.4(CLDN16):c.171G>A (p.Gly57=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990287	NM_006580.4(CLDN16):c.189G>A (p.Glu63=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899500	NM_006580.4(CLDN16):c.192C>T (p.Tyr64=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GConflicting classifications of pathogenicity
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 1916631	NM_006580.4(CLDN16):c.207G>A (p.Ala69=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932736	NM_006580.4(CLDN16):c.210G>A (p.Glu70=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523476	NM_006580.4(CLDN16):c.217+1G>A	CLDN16	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 692157	NM_006580.4(CLDN16):c.217+5G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 1209150	NM_006580.4(CLDN16):c.217+24G>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215386	NM_006580.4(CLDN16):c.218-303T>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271006	NM_006580.4(CLDN16):c.218-219A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197397	NM_006580.4(CLDN16):c.218-78T>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660787	NM_006580.4(CLDN16):c.218-14C>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1028524	NM_006580.4(CLDN16):c.218-10G>A	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia	GUncertain significance
Select item 5936	NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)	CLDN16 (L75P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2090844	NM_006580.4(CLDN16):c.232A>G (p.Thr78Ala)	CLDN16 (T78A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5925	NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)	CLDN16 (R149* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1199406	NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln)	CLDN16 (R79Q)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GPathogenic
Select item 2965266	NM_006580.4(CLDN16):c.240G>A (p.Ala80=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5935	NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp)	CLDN16 (L81W)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GPathogenic
Select item 5934	NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)	CLDN16 (L151F +1 more)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GPathogenic
Select item 983144	NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs)	CLDN16 (T95fs)	Insertion (frameshift variant)	Primary hypomagnesemia	GUncertain significance
Select item 3267594	NM_006580.4(CLDN16):c.283A>T (p.Thr95Ser)	CLDN16 (T95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2128060	NM_006580.4(CLDN16):c.289C>G (p.Leu97Val)	CLDN16 (L97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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