2032[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 57871	GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1	BCL6, BCL6-AS1 +70 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57822	GRCh38/hg38 3q28(chr3:190233992-190498928)x3	CLDN1, CLDN16 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1266027	NM_021101.5(CLDN1):c.*261C>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183502	NM_021101.5(CLDN1):c.*102G>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3052181	NM_021101.5(CLDN1):c.*7G>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 502599	NM_021101.5(CLDN1):c.631G>A (p.Val211Met)	CLDN1, CLDN16 (V211M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597442	NM_021101.5(CLDN1):c.618C>T (p.Ser206=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	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 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 3357349	NM_021101.5(CLDN1):c.583A>G (p.Thr195Ala)	CLDN1, CLDN16 (T195A)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 499338	NM_021101.5(CLDN1):c.563G>A (p.Arg188Gln)	CLDN16, CLDN1 (R188Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 3356837	NM_021101.5(CLDN1):c.518C>G (p.Ser173Cys)	CLDN1, CLDN16 (S173C)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	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 disorder	GLikely benign
Select item 3346134	NM_021101.5(CLDN1):c.510T>C (p.Ala170=)	CLDN16, CLDN1	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
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 596339	NM_021101.5(CLDN1):c.500C>T (p.Thr167Ile)	CLDN1, CLDN16 (T167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593487	NM_021101.5(CLDN1):c.493C>G (p.Leu165Val)	CLDN1, CLDN16 (L165V)	Single nucleotide variant (missense variant)	not provided	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 1250876	NM_021101.5(CLDN1):c.474-155G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266907	NM_021101.5(CLDN1):c.474-268T>C	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079485	NM_021101.5(CLDN1):c.473+14G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 196505	NM_021101.5(CLDN1):c.473+6G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not specified +1 more	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 1382003	NM_021101.5(CLDN1):c.464T>C (p.Val155Ala)	CLDN1, CLDN16 (V155A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 593448	NM_021101.5(CLDN1):c.432C>T (p.Ile144=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3061649	NM_021101.5(CLDN1):c.408C>T (p.Ala136=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 1277417	NM_021101.5(CLDN1):c.389-230T>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265460	NM_021101.5(CLDN1):c.388+135C>T	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 502336	NM_021101.5(CLDN1):c.388+6A>G	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 593926	NM_021101.5(CLDN1):c.388+4A>G	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 594765	NM_021101.5(CLDN1):c.382C>T (p.Leu128Phe)	CLDN1, CLDN16 (L128F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501718	NM_021101.5(CLDN1):c.379C>A (p.Leu127Ile)	CLDN1, CLDN16 (L127I)	Single nucleotide variant (missense 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 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 1595987	NM_021101.5(CLDN1):c.369_370inv (p.Ala124Thr)	CLDN16, CLDN1 (A124T)	Inversion (missense variant +1 more)	not provided	GLikely benign
Select item 261404	NM_021101.5(CLDN1):c.370G>A (p.Ala124Thr)	CLDN1, CLDN16 (A124T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 195367	NM_021101.5(CLDN1):c.369T>C (p.Gly123=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	Neonatal ichthyosis-sclerosing cholangitis syndrome +2 more	GBenign
Select item 1287539	NM_021101.5(CLDN1):c.366G>A (p.Gly122=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 597466	NM_021101.5(CLDN1):c.364_366delinsAGA (p.Gly122Arg)	CLDN1, CLDN16 (G122R)	Indel (missense variant)	not provided	GUncertain significance
Select item 6089	NM_021101.5(CLDN1):c.358del (p.Val120fs)	CLDN1, CLDN16 (V120fs)	Deletion (frameshift variant)	Neonatal ichthyosis-sclerosing cholangitis syndrome	GPathogenic
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 2186641	NM_021101.5(CLDN1):c.314T>C (p.Met105Thr)	CLDN16, CLDN1 (M105T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3054812	NM_021101.5(CLDN1):c.304A>C (p.Met102Leu)	CLDN1, CLDN16 (M102L)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	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 594563	NM_021101.5(CLDN1):c.298G>A (p.Val100Ile)	CLDN1, CLDN16 (V100I)	Single nucleotide variant (missense variant)	CLDN1-related disorder +1 more	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 3061117	NM_021101.5(CLDN1):c.281C>A (p.Ala94Glu)	CLDN1, CLDN16 (A94E)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	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 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 2636080	NM_021101.5(CLDN1):c.263T>A (p.Ile88Asn)	CLDN1, CLDN16 (I88N)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 502531	NM_021101.5(CLDN1):c.242G>A (p.Arg81His)	CLDN1, CLDN16 (R81H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598707	NM_021101.5(CLDN1):c.238A>G (p.Thr80Ala)	CLDN1, CLDN16 (T80A)	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 1942230	NM_021101.5(CLDN1):c.224-5G>A	CLDN16, CLDN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226100	NM_021101.5(CLDN1):c.224-164C>T	CLDN16, CLDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221315	NM_021101.5(CLDN1):c.224-207T>C	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246415	NM_021101.5(CLDN1):c.223+172C>G	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 498019	NM_021101.5(CLDN1):c.223+9A>C	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 6088	NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer)	CLDN1, CLDN16	Deletion (nonsense)	Neonatal ichthyosis-sclerosing cholangitis syndrome	GPathogenic
Select item 289199	NM_021101.5(CLDN1):c.195A>G (p.Lys65=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 489303	NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)	CLDN1, CLDN16 (C64*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3045825	NM_021101.5(CLDN1):c.188A>G (p.Gln63Arg)	CLDN1, CLDN16 (Q63R)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 1306324	NM_021101.5(CLDN1):c.172A>T (p.Ser58Cys)	CLDN1, CLDN16 (S58C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2847239	NM_021101.5(CLDN1):c.150G>T (p.Leu50=)	CLDN16, CLDN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 285502	NM_021101.5(CLDN1):c.147G>A (p.Gly49=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1322095	NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter)	CLDN1, CLDN16 (Y47*)	Single nucleotide variant (nonsense +1 more)	Neonatal ichthyosis-sclerosing cholangitis syndrome	GPathogenic
Select item 501090	NM_021101.5(CLDN1):c.111C>A (p.Gly37=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 261402	NM_021101.5(CLDN1):c.108C>T (p.Ala36=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3030209	NM_021101.5(CLDN1):c.105T>C (p.Tyr35=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
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 797100	NM_021101.5(CLDN1):c.66C>T (p.Ile22=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910791	NM_021101.5(CLDN1):c.60C>T (p.Gly20=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1396298	NM_021101.5(CLDN1):c.53G>A (p.Trp18Ter)	CLDN1, CLDN16 (W18*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 288149	NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)	CLDN1, CLDN16 (A14V)	Single nucleotide variant (missense variant)	not provided	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 3051909	NM_021101.5(CLDN1):c.18G>C (p.Leu6=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 261403	NM_021101.5(CLDN1):c.15G>A (p.Gly5=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 595236	NM_021101.5(CLDN1):c.14G>T (p.Gly5Val)	CLDN16, CLDN1 (G5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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