55898[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 2645716	NM_001286451.2(HDDC3):c.414G>A (p.Trp138Ter)	HDDC3, UNC45A (W138*)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely benign
Select item 3524508	NM_001286451.2(HDDC3):c.403C>G (p.Pro135Ala)	HDDC3, UNC45A (P135A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104676	NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)	HDDC3, LOC130057951 +1 more (R132S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104675	NM_001286451.2(HDDC3):c.392A>G (p.Asn131Ser)	HDDC3, LOC130057951 +1 more (N131S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3524506	NM_001286451.2(HDDC3):c.340G>A (p.Gly114Arg)	HDDC3, LOC130057951 +1 more (G114R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483679	NM_001286451.2(HDDC3):c.332G>A (p.Ser111Asn)	HDDC3, LOC130057951 +1 more (S111N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3283721	NM_001286451.2(HDDC3):c.290A>G (p.Lys97Arg)	HDDC3, LOC130057951 +1 more (K97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3524507	NM_001286451.2(HDDC3):c.76G>T (p.Asp26Tyr)	HDDC3, UNC45A (D26Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3524509	NM_001286451.2(HDDC3):c.47C>T (p.Ala16Val)	HDDC3, UNC45A (A16V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3024390	NM_018671.5(UNC45A):c.-98G>T	LOC130057954, UNC45A	Single nucleotide variant (genic upstream transcript variant +2 more)	Cholestasis-edema syndrome, Norwegian type +2 more	GConflicting classifications of pathogenicity
Select item 2311747	NM_018671.5(UNC45A):c.4A>G (p.Thr2Ala)	LOC130057954, UNC45A (T2A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1955253	NM_018671.5(UNC45A):c.14dup (p.Pro6fs)	LOC130057954, UNC45A (P6fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1394818	NM_018671.5(UNC45A):c.23C>T (p.Thr8Ile)	LOC130057954, UNC45A (T8I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1896513	NM_018671.5(UNC45A):c.30G>T (p.Glu10Asp)	LOC130057954, UNC45A (E10D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1579767	NM_018671.5(UNC45A):c.30G>A (p.Glu10=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2418330	NM_018671.5(UNC45A):c.31C>T (p.Pro11Ser)	LOC130057954, UNC45A (P11S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2078984	NM_018671.5(UNC45A):c.32C>A (p.Pro11His)	LOC130057954, UNC45A (P11H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1043563	NM_018671.5(UNC45A):c.32C>T (p.Pro11Leu)	LOC130057954, UNC45A (P11L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1644687	NM_018671.5(UNC45A):c.33C>A (p.Pro11=)	LOC130057954, UNC45A	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2224056	NM_018671.5(UNC45A):c.35G>C (p.Arg12Pro)	LOC130057954, UNC45A (R12P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2046956	NM_018671.5(UNC45A):c.36G>A (p.Arg12=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1913074	NM_018671.5(UNC45A):c.44C>G (p.Thr15Ser)	LOC130057954, UNC45A (T15S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1345613	NM_018671.5(UNC45A):c.44C>T (p.Thr15Ile)	LOC130057954, UNC45A (T15I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1933212	NM_018671.5(UNC45A):c.48C>T (p.Pro16=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2441784	NM_018671.5(UNC45A):c.51+2T>C	UNC45A, LOC130057954	Single nucleotide variant (intron variant +1 more)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 2188041	NM_018671.5(UNC45A):c.51+5G>A	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1906575	NM_018671.5(UNC45A):c.51+8C>A	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019188	NM_018671.5(UNC45A):c.51+13C>T	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670301	NM_018671.5(UNC45A):c.52-15C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918961	NM_018671.5(UNC45A):c.52-8C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2420286	NM_018671.5(UNC45A):c.55A>G (p.Ser19Gly)	UNC45A (S19G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1435976	NM_018671.5(UNC45A):c.62_63insAGCAGCTGGGAAGTAGCA (p.Val21_Glu22insAlaAlaGlyLysTer)	UNC45A	Insertion (nonsense +2 more)	not provided	GUncertain significance
Select item 2068521	NM_018671.5(UNC45A):c.71T>G (p.Leu24Arg)	UNC45A (L24R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814846	NM_018671.5(UNC45A):c.78G>A (p.Lys26=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079650	NM_018671.5(UNC45A):c.87T>C (p.Asn29=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880833	NM_018671.5(UNC45A):c.90G>A (p.Glu30=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1575423	NM_018671.5(UNC45A):c.117C>A (p.Gly39=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1476282	NM_018671.5(UNC45A):c.119C>A (p.Ala40Asp)	UNC45A (A25D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2872129	NM_018671.5(UNC45A):c.144G>A (p.Leu48=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3466026	NM_018671.5(UNC45A):c.152A>C (p.Asp51Ala)	UNC45A (D51A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1501421	NM_018671.5(UNC45A):c.153C>G (p.Asp51Glu)	UNC45A (D51E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529400	NM_018671.5(UNC45A):c.156G>C (p.Ala52=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981845	NM_018671.5(UNC45A):c.168C>T (p.Asp56=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055438	NM_018671.5(UNC45A):c.191G>A (p.Arg64Gln)	UNC45A (R49Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1641185	NM_018671.5(UNC45A):c.195C>T (p.Ala65=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980489	NM_018671.5(UNC45A):c.210G>A (p.Lys70=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062256	NM_018671.5(UNC45A):c.213+1G>C	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 1674286	NM_018671.5(UNC45A):c.213+10C>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633953	NM_018671.5(UNC45A):c.213+13G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956169	NM_018671.5(UNC45A):c.214-18C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561509	NM_018671.5(UNC45A):c.214-8T>C	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740929	NM_018671.5(UNC45A):c.214-7C>T	UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3381131	NM_018671.5(UNC45A):c.214-2A>G	UNC45A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1467060	NM_018671.5(UNC45A):c.223G>A (p.Asp75Asn)	UNC45A (D60N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1384585	NM_018671.5(UNC45A):c.223G>C (p.Asp75His)	UNC45A (D60H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114607	NM_018671.5(UNC45A):c.233A>T (p.Glu78Val)	UNC45A (E63V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1647727	NM_018671.5(UNC45A):c.237A>G (p.Thr79=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2043816	NM_018671.5(UNC45A):c.245C>G (p.Ser82Cys)	UNC45A (S82C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1595305	NM_018671.5(UNC45A):c.246C>A (p.Ser82=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1466957	NM_018671.5(UNC45A):c.247A>C (p.Lys83Gln)	UNC45A (K68Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933162	NM_018671.5(UNC45A):c.250+5G>A	UNC45A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1668265	NM_018671.5(UNC45A):c.251-20G>A	UNC45A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1955061	NM_018671.5(UNC45A):c.251-15C>T	UNC45A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2709296	NM_018671.5(UNC45A):c.251-5C>T	UNC45A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1377851	NM_018671.5(UNC45A):c.254T>C (p.Ile85Thr)	UNC45A (I70T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522751	NM_018671.5(UNC45A):c.257A>G (p.Glu86Gly)	UNC45A (E71G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1595589	NM_018671.5(UNC45A):c.261G>A (p.Lys87=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2246169	NM_018671.5(UNC45A):c.269G>C (p.Gly90Ala)	UNC45A (G90A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1427501	NM_018671.5(UNC45A):c.273T>A (p.Asp91Glu)	UNC45A (D76E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1647541	NM_018671.5(UNC45A):c.285C>T (p.Leu95=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1997075	NM_018671.5(UNC45A):c.287A>G (p.Tyr96Cys)	UNC45A (Y96C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476317	NM_018671.5(UNC45A):c.289C>T (p.Arg97Trp)	UNC45A (R82W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380327	NM_018671.5(UNC45A):c.290G>A (p.Arg97Gln)	UNC45A (R82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776455	NM_018671.5(UNC45A):c.292C>A (p.Arg98=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1164086	NM_018671.5(UNC45A):c.292C>T (p.Arg98Trp)	UNC45A (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	Osteootohepatoenteric syndrome	GPathogenic
Select item 1931409	NM_018671.5(UNC45A):c.293G>A (p.Arg98Gln)	UNC45A (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1015391	NM_018671.5(UNC45A):c.302C>A (p.Ala101Asp)	UNC45A (A101D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968108	NM_018671.5(UNC45A):c.305T>C (p.Leu102Pro)	UNC45A (L87P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918000	NM_018671.5(UNC45A):c.319C>G (p.Arg107Gly)	UNC45A (R107G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1467496	NM_018671.5(UNC45A):c.319C>T (p.Arg107Cys)	UNC45A (R92C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051957	NM_018671.5(UNC45A):c.322C>G (p.Leu108Val)	UNC45A (L93V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1095266	NM_018671.5(UNC45A):c.327C>T (p.Asp109=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966934	NM_018671.5(UNC45A):c.343C>T (p.Leu115=)	UNC45A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405320	NM_018671.5(UNC45A):c.350G>C (p.Arg117Thr)	UNC45A (R102T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087595	NM_018671.5(UNC45A):c.351A>T (p.Arg117Ser)	UNC45A (R102S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2427892	NM_018671.5(UNC45A):c.355G>A (p.Val119Met)	UNC45A (V104M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020181	NM_018671.5(UNC45A):c.364G>A (p.Glu122Lys)	UNC45A (E107K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1508648	NM_018671.5(UNC45A):c.364G>C (p.Glu122Gln)	UNC45A (E107Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362372	NM_018671.5(UNC45A):c.367C>G (p.Pro123Ala)	UNC45A (P123A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468556	NM_018671.5(UNC45A):c.371A>C (p.Lys124Thr)	UNC45A (K124T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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