55739[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 279

<< First< Prev

Page of 3

	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 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 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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 155034	GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3	LINC00399, LINC00443 +152 more	Copy number gain	See cases	GUncertain significance
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 152966	GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1	LOC130010121, LOC130010122 +156 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 147436	GRCh38/hg38 13q34(chr13:109862835-110921746)x3	ANKRD10, ANKRD10-IT1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 1703005	NC_000013.11:g.110615008_110622534del	LOC130010118, LOC130010119 +4 more	Deletion	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 2232059	NM_001242882.2(NAXD):c.35C>T (p.Ala12Val)	NAXD, NAXD-AS1 (A12V)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 978059	NM_001242882.2(NAXD):c.44del (p.Arg15fs)	NAXD, NAXD-AS1 (R15fs +1 more)	Deletion (5 prime UTR variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 1031247	NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	NAXD, NAXD-AS1 (V16I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 1423940	NM_001242882.2(NAXD):c.46+39C>T	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1165481	NM_001242882.2(NAXD):c.46+66C>T	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1657361	NM_001242882.2(NAXD):c.46+69G>C	NAXD, NAXD-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1920119	NM_001242882.2(NAXD):c.46+93C>T	NAXD, NAXD-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1501052	NM_001242882.2(NAXD):c.46+94G>A	NAXD, NAXD-AS1 (A23T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721679	NM_001242882.2(NAXD):c.46+99C>T	NAXD, NAXD-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2111581	NM_001242882.2(NAXD):c.46+101C>G	NAXD, NAXD-AS1 (A25G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1571970	NM_001242882.2(NAXD):c.46+114G>A	LOC130010118, NAXD +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992109	NM_001242882.2(NAXD):c.46+124G>A	LOC130010118, NAXD +1 more (A33T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2170823	NM_001242882.2(NAXD):c.46+125C>T	LOC130010118, NAXD +1 more (A33V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978687	NM_001242882.2(NAXD):c.46+145G>C	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567427	NM_001242882.2(NAXD):c.46+147C>T	LOC130010118, NAXD +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 617759	NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	NAXD (A20fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1635825	NM_001242882.2(NAXD):c.60G>A (p.Ala20=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2978561	NM_001242882.2(NAXD):c.65C>T (p.Ser22Leu)	NAXD (S22L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2061243	NM_001242882.2(NAXD):c.66G>T (p.Ser22=)	NAXD	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 3029580	NM_001242882.2(NAXD):c.69A>G (p.Leu23=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 2393929	NM_001242882.2(NAXD):c.70C>T (p.Arg24Cys)	NAXD (R24C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1431935	NM_001242882.2(NAXD):c.70C>A (p.Arg24Ser)	NAXD (R24S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2249122	NM_001242882.2(NAXD):c.71G>T (p.Arg24Leu)	NAXD (R42L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1375660	NM_001242882.2(NAXD):c.71G>C (p.Arg24Pro)	NAXD (R42P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1703003	NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)	NAXD (T35fs +1 more)	Deletion (frameshift variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 1644883	NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys)	NAXD (N34K +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency +1 more	GBenign/Likely benign
Select item 1349364	NM_001242882.2(NAXD):c.133C>T (p.Pro45Ser)	NAXD (P45S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1670248	NM_001242882.2(NAXD):c.141T>C (p.Ser47=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1474459	NM_001242882.2(NAXD):c.158G>C (p.Gly53Ala)	NAXD (G71A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2075518	NM_001242882.2(NAXD):c.164A>G (p.Asp55Gly)	NAXD (D73G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1957708	NM_001242882.2(NAXD):c.177C>T (p.Gly59=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1983941	NM_001242882.2(NAXD):c.178G>A (p.Val60Ile)	NAXD (V78I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1031245	NM_001242882.2(NAXD):c.181G>C (p.Val61Leu)	NAXD (V61L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 617758	NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser)	NAXD (G63S +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 1660557	NM_001242882.2(NAXD):c.198-19_198-18del	NAXD	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1617204	NM_001242882.2(NAXD):c.243+11T>G	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964188	NM_001242882.2(NAXD):c.243+20_243+23del	NAXD	Deletion (intron variant)	not provided	GLikely benign
Select item 1599200	NM_001242882.2(NAXD):c.243+19_243+23del	NAXD	Deletion (intron variant)	not provided	GBenign
Select item 1899173	NM_001242882.2(NAXD):c.246C>T (p.Gly82=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3256536	NM_001242882.2(NAXD):c.269G>T (p.Cys90Phe)	NAXD (C108F +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GUncertain significance
Select item 1380023	NM_001242882.2(NAXD):c.278C>T (p.Ala93Val)	NAXD (A111V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1056133	NM_001242882.2(NAXD):c.279G>A (p.Ala93=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2985773	NM_001242882.2(NAXD):c.285A>G (p.Ala95=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3055073	NM_001242882.2(NAXD):c.303C>T (p.Tyr101=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	NAXD-related disorder	GLikely benign
Select item 1475253	NM_001242882.2(NAXD):c.307C>T (p.Pro103Ser)	NAXD (P103S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1037710	NM_001242882.2(NAXD):c.308C>T (p.Pro103Leu)	NAXD (P121L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2064762	NM_001242882.2(NAXD):c.318C>T (p.Ile106=)	NAXD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1703002	NM_001242882.2(NAXD):c.318C>G (p.Ile106Met)	NAXD (I106M +1 more)	Single nucleotide variant (missense variant +2 more)	NAD(P)HX dehydratase deficiency	GPathogenic
Select item 2043621	NM_001242882.2(NAXD):c.319G>A (p.Val107Ile)	NAXD (V107I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1987391	NM_001242882.2(NAXD):c.332+17C>G	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908023	NM_001242882.2(NAXD):c.332+17C>T	NAXD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1584859	NM_001242882.2(NAXD):c.332+18G>A	NAXD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572939	NM_001242882.2(NAXD):c.333-10C>G	NAXD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048939	NM_001242882.2(NAXD):c.344A>G (p.Asn115Ser)	NAXD (N115S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3