6344[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 472

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 155074	GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3	KL, LINC00423 +24 more	Copy number gain	See cases	GUncertain significance
Select item 1235549	NC_000013.11:g.33016276G>A	KL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2055714	NC_000013.11:g.33016362_33016466del	KL	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
Select item 2066855	NC_000013.11:g.33016361_33016468del	KL	Deletion (genic upstream transcript variant)	not provided	GUncertain significance
Select item 1485727	NM_004795.4(KL):c.4C>T (p.Pro2Ser)	KL (P2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2568463	NM_004795.4(KL):c.7G>A (p.Ala3Thr)	KL (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1421366	NM_004795.4(KL):c.7G>T (p.Ala3Ser)	KL (A3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750680	NM_004795.4(KL):c.12C>A (p.Ser4Arg)	KL (S4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982811	NM_004795.4(KL):c.12C>T (p.Ser4=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 881364	NM_004795.4(KL):c.15C>T (p.Ala5=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3115192	NM_004795.4(KL):c.20C>T (p.Pro7Leu)	KL (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1981120	NM_004795.4(KL):c.34CCG[5] (p.Pro15_Ser16insPro)	KL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2785144	NM_004795.4(KL):c.36G>A (p.Pro12=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832592	NM_004795.4(KL):c.38C>G (p.Pro13Arg)	KL (P13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446101	NM_004795.4(KL):c.46TCGCTG[3] (p.16SL[3])	KL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2780901	NM_004795.4(KL):c.46TCGCTG[1] (p.16SL[1])	KL	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1415712	NM_004795.4(KL):c.58C>G (p.Leu20Val)	KL (L20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318479	NM_004795.4(KL):c.80G>A (p.Gly27Asp)	KL (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881808	NM_004795.4(KL):c.87C>T (p.Arg29=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881809	NM_004795.4(KL):c.91C>T (p.Leu31=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2868219	NM_004795.4(KL):c.105G>A (p.Pro35=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185023	NM_004795.4(KL):c.120G>T (p.Gln40His)	KL (Q40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404138	NM_004795.4(KL):c.124T>C (p.Trp42Arg)	KL (W42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2881503	NM_004795.4(KL):c.126G>A (p.Trp42Ter)	KL (W42*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2327363	NM_004795.4(KL):c.137C>T (p.Ser46Leu)	KL (S46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2797563	NM_004795.4(KL):c.138G>C (p.Ser46=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311678	NM_004795.4(KL):c.140G>A (p.Arg47Gln)	KL (R47Q)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 2329628	NM_004795.4(KL):c.143C>G (p.Pro48Arg)	KL (P48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447707	NM_004795.4(KL):c.149C>T (p.Ala50Val)	KL (A50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229037	NM_004795.4(KL):c.155A>C (p.Glu52Ala)	KL (E52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713707	NM_004795.4(KL):c.161C>T (p.Ala54Val)	KL (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311679	NM_004795.4(KL):c.191G>A (p.Gly64Asp)	KL (G64D)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 1617013	NM_004795.4(KL):c.225G>A (p.Gln75=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470296	NM_004795.4(KL):c.234del (p.Gly79fs)	KL (G79fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3288772	NM_004795.4(KL):c.238T>G (p.Trp80Gly)	KL (W80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1927863	NM_004795.4(KL):c.250G>T (p.Gly84Cys)	KL (G84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345701	NM_004795.4(KL):c.254A>G (p.Lys85Arg)	KL (K85R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1439474	NM_004795.4(KL):c.257G>A (p.Gly86Asp)	KL (G86D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2332441	NM_004795.4(KL):c.265A>C (p.Ile89Leu)	KL (I89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2029958	NM_004795.4(KL):c.267C>A (p.Ile89=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311680	NM_004795.4(KL):c.273T>C (p.Asp91=)	KL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1962770	NM_004795.4(KL):c.282C>A (p.Thr94=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268311	NM_004795.4(KL):c.290C>A (p.Pro97His)	KL (P97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675034	NM_004795.4(KL):c.292C>T (p.Leu98=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2981867	NM_004795.4(KL):c.299C>T (p.Pro100Leu)	KL (P100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383279	NM_004795.4(KL):c.304G>C (p.Gly102Arg)	KL (G102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410941	NM_004795.4(KL):c.316A>C (p.Asn106His)	KL (N106H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030766	NM_004795.4(KL):c.319G>T (p.Ala107Ser)	KL (A107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311681	NM_004795.4(KL):c.320C>T (p.Ala107Val)	KL (A107V)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 881810	NM_004795.4(KL):c.326T>G (p.Leu109Arg)	KL (L109R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311682	NM_004795.4(KL):c.327G>C (p.Leu109=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2967652	NM_004795.4(KL):c.333G>C (p.Leu111Phe)	KL (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004487	NM_004795.4(KL):c.337G>T (p.Ala113Ser)	KL (A113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986964	NM_004795.4(KL):c.339C>T (p.Ala113=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931928	NM_004795.4(KL):c.348G>T (p.Pro116=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998351	NM_004795.4(KL):c.366G>T (p.Gly122=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727045	NM_004795.4(KL):c.369C>T (p.Asp123=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050729	NM_004795.4(KL):c.370G>A (p.Val124Ile)	KL (V124I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402694	NM_004795.4(KL):c.379G>A (p.Asp127Asn)	KL (D127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64550	NM_004795.4(KL):c.387C>T (p.Tyr129=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 882959	NM_004795.4(KL):c.393C>A (p.Asn131Lys)	KL (N131K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 1367439	NM_004795.4(KL):c.398T>A (p.Phe133Tyr)	KL (F133Y)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1938072	NM_004795.4(KL):c.403G>T (p.Asp135Tyr)	KL (D135Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716311	NM_004795.4(KL):c.418C>T (p.Arg140Cys)	KL (R140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944195	NM_004795.4(KL):c.419G>A (p.Arg140His)	KL (R140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882960	NM_004795.4(KL):c.426C>G (p.Leu142=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 882961	NM_004795.4(KL):c.442C>T (p.Arg148Cys)	KL (R148C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 2989513	NM_004795.4(KL):c.444C>G (p.Arg148=)	KL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882962	NM_004795.4(KL):c.450C>A (p.Ser150=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 2068113	NM_004795.4(KL):c.466G>C (p.Val156Leu)	KL (V156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311683	NM_004795.4(KL):c.476A>G (p.Asn159Ser)	KL (N159S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 2811297	NM_004795.4(KL):c.478G>A (p.Gly160Ser)	KL (G160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896079	NM_004795.4(KL):c.485C>T (p.Ala162Val)	KL (A162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537092	NM_004795.4(KL):c.486G>A (p.Ala162=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 64551	NM_004795.4(KL):c.497A>G (p.Asn166Ser)	KL (N166S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance

<< First< Prev

Page of 5