18514[HGNC] - ClinVar - NCBI

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	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 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 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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 883951	NM_015087.5(SPART):c.*2717C>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883952	NM_015087.5(SPART):c.*2456T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311736	NM_015087.5(SPART):c.*2454A>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311737	NM_015087.5(SPART):c.*2343T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311738	NM_015087.5(SPART):c.*2299T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880662	NM_015087.5(SPART):c.*2280T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311739	NM_015087.5(SPART):c.*2256G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311740	NM_015087.5(SPART):c.*2204C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311741	NM_015087.5(SPART):c.2150_2154del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311742	NM_015087.5(SPART):c.2127_2130del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311743	NM_015087.5(SPART):c.*2123T>C	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880663	NM_015087.5(SPART):c.*2071T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882071	NM_015087.5(SPART):c.*2053C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882072	NM_015087.5(SPART):c.*2035T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882073	NM_015087.5(SPART):c.*2023T>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882074	NM_015087.5(SPART):c.*1908A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311744	NM_015087.5(SPART):c.*1892G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311745	NM_015087.5(SPART):c.*1848A>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882075	NM_015087.5(SPART):c.*1847G>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311746	NM_015087.5(SPART):c.*1799G>A	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 311747	NM_015087.5(SPART):c.*1794A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883219	NM_015087.5(SPART):c.*1751A>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883220	NM_015087.5(SPART):c.*1686G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883221	NM_015087.5(SPART):c.*1645C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883222	NM_015087.5(SPART):c.*1624C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311748	NM_015087.5(SPART):c.*1550A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311749	NM_015087.5(SPART):c.*1456G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883223	NM_015087.5(SPART):c.*1267C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884016	NM_015087.5(SPART):c.*1187A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884017	NM_015087.5(SPART):c.*1165A>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884018	NM_015087.5(SPART):c.*1150A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311750	NM_015087.5(SPART):c.*1014A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 2498581	NM_015087.5(SPART):c.980_982dup	SPART	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 884019	NM_015087.5(SPART):c.*980T>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884020	NM_015087.5(SPART):c.*964C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311751	NM_015087.5(SPART):c.*924C>A	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 884021	NM_015087.5(SPART):c.*909A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GBenign
Select item 311752	NM_015087.5(SPART):c.*846G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GLikely benign
Select item 311753	NM_015087.5(SPART):c.*817A>T	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 880725	NM_015087.5(SPART):c.*758A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311754	NM_015087.5(SPART):c.*734T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311755	NM_015087.5(SPART):c.*716G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880726	NM_015087.5(SPART):c.*715C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311756	NM_015087.5(SPART):c.*699GTATT[1]	SPART	Microsatellite (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880727	NM_015087.5(SPART):c.*644G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311757	NM_015087.5(SPART):c.*624A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GBenign
Select item 311758	NM_015087.5(SPART):c.*608C>T	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 311759	NM_015087.5(SPART):c.*524A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GLikely benign
Select item 311760	NM_015087.5(SPART):c.*451G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311761	NM_015087.5(SPART):c.*446T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311762	NM_015087.5(SPART):c.*285del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882125	NM_015087.5(SPART):c.*108T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 2174795	NM_015087.5(SPART):c.2001A>T (p.Ter667Cys)	SPART	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1032654	NM_015087.5(SPART):c.1999T>A (p.Ter667Arg)	SPART	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 698221	NM_015087.5(SPART):c.1998A>G (p.Lys666=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482553	NM_015087.5(SPART):c.1991A>G (p.Lys664Arg)	SPART (K664R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624137	NM_015087.5(SPART):c.1989G>A (p.Lys663=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954244	NM_015087.5(SPART):c.1984A>G (p.Lys662Glu)	SPART (K662E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971978	NM_015087.5(SPART):c.1982C>T (p.Ala661Val)	SPART (A661V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337621	NM_015087.5(SPART):c.1973del (p.Val658fs)	SPART (V658fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1446055	NM_015087.5(SPART):c.1969_1972del (p.Lys656_Glu657insTer)	SPART	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 311763	NM_015087.5(SPART):c.1964C>T (p.Thr655Met)	SPART (T655M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311764	NM_015087.5(SPART):c.1954G>A (p.Asp652Asn)	SPART (D652N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2038576	NM_015087.5(SPART):c.1944_1945del (p.Lys651fs)	SPART (K651fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 409264	NM_015087.5(SPART):c.1939G>A (p.Val647Met)	SPART (V647M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 699279	NM_015087.5(SPART):c.1938C>T (p.Asn646=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056084	NM_015087.5(SPART):c.1930A>G (p.Asn644Asp)	SPART (N644D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732534	NM_015087.5(SPART):c.1923A>G (p.Gly641=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 644380	NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)	SPART (E637K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2165059	NM_015087.5(SPART):c.1867A>T (p.Thr623Ser)	SPART (T623S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024293	NM_015087.5(SPART):c.1863A>G (p.Gly621=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986396	NM_015087.5(SPART):c.1848_1850del (p.Ala617del)	SPART (A617del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 461205	NM_015087.5(SPART):c.1837G>A (p.Val613Met)	SPART (V613M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183748	NM_015087.5(SPART):c.1836G>A (p.Met612Ile)	SPART (M612I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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