147912[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 359

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 1271737	NM_175875.5(SIX5):c.*331C>T	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240611	NM_175875.5(SIX5):c.*306G>A	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1318318	NM_175875.5(SIX5):c.*161C>G	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318431	NM_175875.5(SIX5):c.*105C>T	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1251781	NM_175875.5(SIX5):c.*45G>A	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1317909	NM_175875.5(SIX5):c.*32T>C	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1662126	NM_175875.5(SIX5):c.2215C>T (p.Leu739=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933833	NM_175875.5(SIX5):c.2203G>C (p.Glu735Gln)	SIX5 (E735Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991034	NM_175875.5(SIX5):c.2193G>T (p.Val731=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797281	NM_175875.5(SIX5):c.2192T>C (p.Val731Ala)	SIX5 (V731A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315723	NM_175875.5(SIX5):c.2189C>T (p.Ser730Leu)	SIX5 (S730L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2326109	NM_175875.5(SIX5):c.2177C>G (p.Thr726Ser)	SIX5 (T726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 512355	NM_175875.5(SIX5):c.2173C>T (p.Leu725=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely benign
Select item 2071175	NM_175875.5(SIX5):c.2170G>A (p.Val724Ile)	SIX5 (V724I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524148	NM_175875.5(SIX5):c.2161G>A (p.Glu721Lys)	SIX5 (E721K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918510	NM_175875.5(SIX5):c.2150G>A (p.Gly717Glu)	SIX5 (G717E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150445	NM_175875.5(SIX5):c.2145C>T (p.Asp715=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2015249	NM_175875.5(SIX5):c.2140G>A (p.Val714Ile)	SIX5 (V714I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992099	NM_175875.5(SIX5):c.2098G>A (p.Asp700Asn)	SIX5 (D700N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2081460	NM_175875.5(SIX5):c.2097C>T (p.Pro699=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531777	NM_175875.5(SIX5):c.2095C>T (p.Pro699Ser)	SIX5 (P699S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2992499	NM_175875.5(SIX5):c.2088G>A (p.Leu696=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262913	NM_175875.5(SIX5):c.2077G>A (p.Val693Met)	SIX5 (V693M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1898716	NM_175875.5(SIX5):c.2076C>G (p.Thr692=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493035	NM_175875.5(SIX5):c.2066C>A (p.Ala689Asp)	SIX5 (A689D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2824486	NM_175875.5(SIX5):c.2061A>G (p.Thr687=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317653	NM_175875.5(SIX5):c.2052G>C (p.Gly684=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984842	NM_175875.5(SIX5):c.2043G>A (p.Ala681=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967485	NM_175875.5(SIX5):c.2042C>T (p.Ala681Val)	SIX5 (A681V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123898	NM_175875.5(SIX5):c.2035C>T (p.Leu679=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978938	NM_175875.5(SIX5):c.2017G>A (p.Ala673Thr)	SIX5 (A673T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536776	NM_175875.5(SIX5):c.2015G>A (p.Ser672Asn)	SIX5 (S672N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2065348	NM_175875.5(SIX5):c.2003G>A (p.Gly668Glu)	SIX5 (G668E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958730	NM_175875.5(SIX5):c.2002G>A (p.Gly668Arg)	SIX5 (G668R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635225	NM_175875.5(SIX5):c.1987C>T (p.Pro663Ser)	SIX5 (P663S)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 1960469	NM_175875.5(SIX5):c.1986G>A (p.Val662=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152606	NM_175875.5(SIX5):c.1983C>T (p.Ala661=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875235	NM_175875.5(SIX5):c.1980G>A (p.Ala660=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077626	NM_175875.5(SIX5):c.1979C>T (p.Ala660Val)	SIX5 (A660V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702683	NM_175875.5(SIX5):c.1979C>A (p.Ala660Glu)	SIX5 (A660E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1265285	NM_175875.5(SIX5):c.1978G>A (p.Ala660Thr)	SIX5 (A660T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2956321	NM_175875.5(SIX5):c.1967TGT[1] (p.Leu657del)	SIX5 (L657del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1951145	NM_175875.5(SIX5):c.1969T>A (p.Leu657Met)	SIX5 (L657M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708639	NM_175875.5(SIX5):c.1963C>T (p.Leu655=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related disorder +2 more	GBenign/Likely benign
Select item 1911091	NM_175875.5(SIX5):c.1959G>A (p.Glu653=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1963947	NM_175875.5(SIX5):c.1948C>A (p.Pro650Thr)	SIX5 (P650T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495502	NM_175875.5(SIX5):c.1945G>T (p.Ala649Ser)	SIX5 (A649S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316224	NM_175875.5(SIX5):c.1944G>A (p.Pro648=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969037	NM_175875.5(SIX5):c.1943C>G (p.Pro648Arg)	SIX5 (P648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593389	NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)	SIX5 (P648L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2324756	NM_175875.5(SIX5):c.1941C>G (p.Phe647Leu)	SIX5 (F647L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630886	NM_175875.5(SIX5):c.1940T>G (p.Phe647Cys)	SIX5 (F647C)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 1414120	NM_175875.5(SIX5):c.1915_1935dup (p.Asp639_Pro645dup)	SIX5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2558159	NM_175875.5(SIX5):c.1934C>G (p.Pro645Arg)	SIX5 (P645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057787	NM_175875.5(SIX5):c.1933C>T (p.Pro645Ser)	SIX5 (P645S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1963832	NM_175875.5(SIX5):c.1931T>C (p.Leu644Pro)	SIX5 (L644P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704378	NM_175875.5(SIX5):c.1916A>G (p.Asp639Gly)	SIX5 (D639G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075485	NM_175875.5(SIX5):c.1910C>G (p.Ser637Cys)	SIX5 (S637C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262912	NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser)	SIX5 (P635S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GBenign
Select item 1528669	NM_175875.5(SIX5):c.1887C>G (p.Thr629=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467951	NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr)	SIX5 (A626T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197125	NM_175875.5(SIX5):c.1875C>T (p.Ala625=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732479	NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr)	SIX5 (A625T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2066263	NM_175875.5(SIX5):c.1872C>A (p.Pro624=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808603	NM_175875.5(SIX5):c.1871_1872del (p.Pro624fs)	SIX5 (P624fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 594728	NM_175875.5(SIX5):c.1872C>T (p.Pro624=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3162583	NM_175875.5(SIX5):c.1871C>G (p.Pro624Arg)	SIX5 (P624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2971081	NM_175875.5(SIX5):c.1867C>A (p.Pro623Thr)	SIX5 (P623T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805459	NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro)	SIX5 (S618P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109124	NM_175875.5(SIX5):c.1849C>T (p.Leu617Phe)	SIX5 (L617F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368391	NM_175875.5(SIX5):c.1838C>G (p.Ala613Gly)	SIX5 (A613G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984546	NM_175875.5(SIX5):c.1836C>T (p.His612=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888993	NM_175875.5(SIX5):c.1820C>A (p.Ala607Asp)	SIX5 (A607D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 829852	NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)	SIX5 (P601L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 488883	NM_175875.5(SIX5):c.1789G>T (p.Glu597Ter)	SIX5 (E597*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 508160	NM_175875.5(SIX5):c.1783G>A (p.Val595Met)	SIX5 (V595M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2895422	NM_175875.5(SIX5):c.1774G>A (p.Ala592Thr)	SIX5 (A592T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285149	NM_175875.5(SIX5):c.1773G>T (p.Thr591=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely benign
Select item 3162582	NM_175875.5(SIX5):c.1771A>T (p.Thr591Ser)	SIX5 (T591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1924422	NM_175875.5(SIX5):c.1755G>C (p.Leu585=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082134	NM_175875.5(SIX5):c.1724_1751delinsGCTGCCAGGT (p.Gln575_Ala584delinsArgCysGlnVal)	SIX5	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1942737	NM_175875.5(SIX5):c.1740C>T (p.Ala580=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056962	NM_175875.5(SIX5):c.1739C>T (p.Ala580Val)	SIX5 (A580V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2176423	NM_175875.5(SIX5):c.1717G>C (p.Val573Leu)	SIX5 (V573L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981524	NM_175875.5(SIX5):c.1717G>A (p.Val573Ile)	SIX5 (V573I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2603711	NM_175875.5(SIX5):c.1699T>C (p.Phe567Leu)	SIX5 (F567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2896988	NM_175875.5(SIX5):c.1692C>T (p.Thr564=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994495	NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe)	SIX5 (L563F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1991908	NM_175875.5(SIX5):c.1675G>A (p.Gly559Ser)	SIX5 (G559S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641488	NM_175875.5(SIX5):c.1665_1666delinsTG (p.Leu556Val)	SIX5 (L556V)	Indel (missense variant)	not provided	GLikely benign
Select item 1332969	NM_175875.5(SIX5):c.1666C>G (p.Leu556Val)	SIX5 (L556V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1320975	NM_175875.5(SIX5):c.1666C>A (p.Leu556Met)	SIX5 (L556M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 769459	NM_175875.5(SIX5):c.1666= (p.Leu556=)	SIX5	Variation (no sequence alteration)	not provided	GBenign
Select item 1809688	NM_175875.5(SIX5):c.1665C>T (p.Ala555=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2	GLikely benign
Select item 708831	NM_175875.5(SIX5):c.1656G>A (p.Thr552=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 8601	NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)	SIX5 (T552M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1935333	NM_175875.5(SIX5):c.1651G>T (p.Val551Leu)	SIX5 (V551L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4