ClinVar for Gene (Select 10686) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
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 3145472	NM_006580.4(CLDN16):c.25G>C (p.Ala9Pro)	CLDN16 (A9P)	Single nucleotide variant (missense 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 3145470	NM_006580.4(CLDN16):c.-65G>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3145456	NM_021101.5(CLDN1):c.74C>T (p.Thr25Ile)	CLDN1, CLDN16 (T25I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145455	NM_021101.5(CLDN1):c.484G>T (p.Gly162Cys)	CLDN1, CLDN16 (G162C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145454	NM_021101.5(CLDN1):c.433G>A (p.Val145Ile)	CLDN1, CLDN16 (V145I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145453	NM_021101.5(CLDN1):c.299T>C (p.Val100Ala)	CLDN1, CLDN16 (V100A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145452	NM_021101.5(CLDN1):c.271G>A (p.Gly91Arg)	CLDN1, CLDN16 (G91R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3062251	NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)	CLDN1, CLDN16 (Q7*)	Single nucleotide variant (nonsense +1 more)	Neonatal ichthyosis-sclerosing cholangitis syndrome	GLikely pathogenic
Select item 3061649	NM_021101.5(CLDN1):c.408C>T (p.Ala136=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3061117	NM_021101.5(CLDN1):c.281C>A (p.Ala94Glu)	CLDN1, CLDN16 (A94E)	Single nucleotide variant (missense variant +1 more)	CLDN1-related condition	GUncertain significance
Select item 3058483	NM_006580.4(CLDN16):c.382+5C>T	CLDN16	Single nucleotide variant (intron variant)	CLDN16-related condition	GLikely benign
Select item 3054812	NM_021101.5(CLDN1):c.304A>C (p.Met102Leu)	CLDN1, CLDN16 (M102L)	Single nucleotide variant (missense variant +1 more)	CLDN1-related condition	GUncertain significance
Select item 3054655	NM_006580.4(CLDN16):c.24C>T (p.Ile8=)	CLDN16	Single nucleotide variant (synonymous variant)	CLDN16-related condition	GLikely benign
Select item 3052181	NM_021101.5(CLDN1):c.*7G>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3051909	NM_021101.5(CLDN1):c.18G>C (p.Leu6=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3045825	NM_021101.5(CLDN1):c.188A>G (p.Gln63Arg)	CLDN1, CLDN16 (Q63R)	Single nucleotide variant (missense variant +1 more)	CLDN1-related condition	GUncertain significance
Select item 3031580	NM_021101.5(CLDN1):c.512C>G (p.Ala171Gly)	CLDN1, CLDN16 (A171G)	Single nucleotide variant (missense variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3030209	NM_021101.5(CLDN1):c.105T>C (p.Tyr35=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related condition	GLikely benign
Select item 3019445	NM_006580.4(CLDN16):c.15T>C (p.Leu5=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999441	NM_006580.4(CLDN16):c.675G>A (p.Thr225=)	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 2975931	NM_006580.4(CLDN16):c.-18G>T	CLDN16	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2967737	NM_021101.5(CLDN1):c.372G>A (p.Ala124=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965266	NM_006580.4(CLDN16):c.240G>A (p.Ala80=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958195	NM_006580.4(CLDN16):c.674C>T (p.Thr225Met)	CLDN16 (T225M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910791	NM_021101.5(CLDN1):c.60C>T (p.Gly20=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related condition +1 more	GLikely benign
Select item 2909253	NM_006580.4(CLDN16):c.324T>C (p.Asp108=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877133	NM_006580.4(CLDN16):c.39_50del (p.Phe14_Ala17del)	CLDN16	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2870075	NM_021101.5(CLDN1):c.510T>G (p.Ala170=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847239	NM_021101.5(CLDN1):c.150G>T (p.Leu50=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808014	NM_006580.4(CLDN16):c.641T>C (p.Met214Thr)	CLDN16 (M214T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749967	NM_006580.4(CLDN16):c.699A>C (p.Thr233=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2731722	NM_021101.5(CLDN1):c.231G>A (p.Leu77=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725530	NM_006580.3(CLDN16):c.27T>C (p.Val9=)	CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2636080	NM_021101.5(CLDN1):c.263T>A (p.Ile88Asn)	CLDN1, CLDN16 (I88N)	Single nucleotide variant (missense variant +1 more)	CLDN1-related condition	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 2555430	NM_021101.5(CLDN1):c.289G>A (p.Val97Met)	CLDN1, CLDN16 (V97M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528461	NM_006580.4(CLDN16):c.413A>T (p.Tyr138Phe)	CLDN16 (Y138F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2488831	NM_006580.4(CLDN16):c.-25C>G	CLDN16	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2476222	NM_006580.4(CLDN16):c.470G>A (p.Gly157Asp)	CLDN16 (G157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426654	NC_000003.11:g.(?_189455509)_(192126012_?)dup	CCDC50, CLDN1 +10 more	Duplication	not provided	GUncertain significance
Select item 2425616	NC_000003.11:g.(?_190120106)_(190127825_?)del	CLDN16	Deletion	not provided	GPathogenic
Select item 2424748	NC_000003.11:g.(?_188118572)_(192126012_?)dup	CCDC50, CLDN1 +13 more	Duplication	not provided	GUncertain significance
Select item 2424746	NC_000003.11:g.(?_188118572)_(192126012_?)del	PYDC2, GMNC +13 more	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2308634	NM_021101.5(CLDN1):c.41C>A (p.Ala14Asp)	CLDN1, CLDN16 (A14D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2283542	NM_021101.5(CLDN1):c.591G>T (p.Arg197Ser)	CLDN1, CLDN16 (R197S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269185	NM_021101.5(CLDN1):c.371C>T (p.Ala124Val)	CLDN1, CLDN16 (A124V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2263559	NM_021101.5(CLDN1):c.331G>A (p.Asp111Asn)	CLDN1, CLDN16 (D111N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2216171	NM_006580.4(CLDN16):c.698C>A (p.Thr233Lys)	CLDN16 (T233K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2196778	NM_021101.5(CLDN1):c.270G>A (p.Leu90=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2193853	NM_021101.5(CLDN1):c.203A>C (p.Asp68Ala)	CLDN1, CLDN16 (D68A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191159	NM_006580.4(CLDN16):c.382+8T>C	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186724	NM_006580.4(CLDN16):c.687T>C (p.Tyr229=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186641	NM_021101.5(CLDN1):c.314T>C (p.Met105Thr)	CLDN1, CLDN16 (M105T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2162124	NM_006580.4(CLDN16):c.150C>T (p.Cys50=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128060	NM_006580.4(CLDN16):c.289C>G (p.Leu97Val)	CLDN16 (L97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2102641	NM_021101.5(CLDN1):c.541C>T (p.Leu181=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2079485	NM_021101.5(CLDN1):c.473+14G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2062879	NM_006580.4(CLDN16):c.519T>A (p.Ser173=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049783	NM_021101.5(CLDN1):c.473+5C>T	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2004866	NM_006580.4(CLDN16):c.114+7_114+9del	CLDN16	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1994772	NM_021101.5(CLDN1):c.525C>A (p.Cys175Ter)	CLDN1, CLDN16 (C175*)	Single nucleotide variant (nonsense +1 more)	not provided	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 1991413	NM_006580.4(CLDN16):c.611G>T (p.Arg204Met)	CLDN16 (R204M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976413	NM_006580.4(CLDN16):c.516G>T (p.Gly172=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960280	NM_006580.4(CLDN16):c.383-13C>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954153	NM_006580.3(CLDN16):c.22T>C (p.Leu8=)	CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1953393	NM_006580.4(CLDN16):c.398T>C (p.Ile133Thr)	CLDN16 (I133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942230	NM_021101.5(CLDN1):c.224-5G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940406	NM_006580.4(CLDN16):c.575-16T>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933385	NM_006580.4(CLDN16):c.460A>G (p.Ile154Val)	CLDN16 (I154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932736	NM_006580.4(CLDN16):c.210G>A (p.Glu70=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929146	NM_006580.4(CLDN16):c.588G>C (p.Glu196Asp)	CLDN16 (E196D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925642	NM_006580.4(CLDN16):c.574+13T>C	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923780	NM_006580.4(CLDN16):c.547C>T (p.Leu183Phe)	CLDN16 (L183F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916631	NM_006580.4(CLDN16):c.207G>A (p.Ala69=)	CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1911103	NM_021101.5(CLDN1):c.610C>A (p.Pro204Thr)	CLDN1, CLDN16 (P204T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1723853	NM_006580.4(CLDN16):c.329C>T (p.Pro110Leu)	CLDN16 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715712	NM_006580.4(CLDN16):c.518C>T (p.Ser173Phe)	CLDN16 (S173F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic

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