29899[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 291689	NM_013296.5(GPSM2):c.-486G>C	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291690	NM_013296.5(GPSM2):c.-469C>G	LOC129931083, GPSM2	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 876503	NM_013296.5(GPSM2):c.-453C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291691	NM_013296.5(GPSM2):c.-441G>C	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291692	NM_013296.5(GPSM2):c.-429C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GLikely benign
Select item 291693	NM_013296.5(GPSM2):c.-426G>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291694	NM_013296.5(GPSM2):c.-397C>G	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291695	NM_013296.5(GPSM2):c.-369G>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291696	NM_013296.5(GPSM2):c.-357C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 873607	NM_013296.5(GPSM2):c.-316C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291697	NM_013296.5(GPSM2):c.-306C>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 873608	NM_013296.5(GPSM2):c.-288C>A	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 291698	NM_013296.5(GPSM2):c.-258C>T	GPSM2, LOC129931083	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1175522	NM_013296.5(GPSM2):c.-248-179C>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382922	NM_013296.5(GPSM2):c.-248-16T>C	GPSM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 632077	NM_013296.5(GPSM2):c.-248-1G>A	GPSM2	Single nucleotide variant (splice acceptor variant +1 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291699	NM_013296.5(GPSM2):c.-245T>A	GPSM2	Single nucleotide variant (5 prime UTR variant +1 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 179233	NM_013296.5(GPSM2):c.-2C>T	GPSM2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3065632	NM_013296.5(GPSM2):c.11A>T (p.Asn4Ile)	GPSM2 (N4I)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GLikely benign
Select item 1308983	NM_013296.5(GPSM2):c.23T>C (p.Met8Thr)	GPSM2 (M8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507280	NM_013296.5(GPSM2):c.36T>C (p.His12=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1402146	NM_013296.5(GPSM2):c.50G>A (p.Arg17His)	GPSM2 (R17H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269298	NM_013296.5(GPSM2):c.56+49G>A	GPSM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265073	NM_013296.5(GPSM2):c.56+145dup	GPSM2	Duplication (intron variant)	not provided	GBenign
Select item 1189415	NM_013296.5(GPSM2):c.56+155T>C	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230399	NM_013296.5(GPSM2):c.57-124C>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232438	NM_013296.5(GPSM2):c.57-86C>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 228731	NM_013296.5(GPSM2):c.57-10A>G	GPSM2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45572	NM_013296.5(GPSM2):c.87G>A (p.Leu29=)	GPSM2	Single nucleotide variant (synonymous variant)	Chudley-McCullough syndrome +2 more	GBenign/Likely benign
Select item 1933065	NM_013296.5(GPSM2):c.121C>T (p.Arg41Cys)	GPSM2 (R41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227414	NM_013296.5(GPSM2):c.123C>T (p.Arg41=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 587568	NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr)	GPSM2 (A42T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 1308151	NM_013296.5(GPSM2):c.129C>T (p.Gly43=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2540473	NM_013296.5(GPSM2):c.130G>C (p.Val44Leu)	GPSM2 (V44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 560890	NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)	GPSM2 (F46L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 391747	NM_013296.5(GPSM2):c.172C>T (p.Leu58=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 179453	NM_013296.5(GPSM2):c.186C>T (p.Ser62=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2499928	NM_013296.5(GPSM2):c.238A>G (p.Lys80Glu)	GPSM2 (K80E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178941	NM_013296.5(GPSM2):c.249A>G (p.Glu83=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1937214	NM_013296.5(GPSM2):c.257A>G (p.His86Arg)	GPSM2 (H86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874608	NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)	GPSM2 (A92T)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome +1 more	GUncertain significance
Select item 291700	NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys)	GPSM2 (R93K)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 45567	NM_013296.5(GPSM2):c.278+5T>C	GPSM2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2960886	NM_013296.5(GPSM2):c.279-12del	GPSM2	Deletion (intron variant)	not provided	GBenign
Select item 874609	NM_013296.5(GPSM2):c.279-6T>C	GPSM2	Single nucleotide variant (intron variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 1697175	NM_013296.5(GPSM2):c.286G>A (p.Gly96Arg)	GPSM2 (G96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094969	NM_013296.5(GPSM2):c.319A>G (p.Asn107Asp)	GPSM2 (N107D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431275	NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys)	GPSM2 (E120K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 806179	NM_013296.5(GPSM2):c.361G>C (p.Ala121Pro)	GPSM2 (A121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1823	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2 (R127*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 45568	NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln)	GPSM2 (R127Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3032032	NM_013296.5(GPSM2):c.414+2T>C	GPSM2	Single nucleotide variant (splice donor variant)	GPSM2-related condition	GLikely pathogenic
Select item 1313054	NM_013296.5(GPSM2):c.414+4A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 513026	NM_013296.5(GPSM2):c.414+8C>T	GPSM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 740337	NM_013296.5(GPSM2):c.414+9G>A	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2528775	NM_013296.5(GPSM2):c.424G>A (p.Ala142Thr)	GPSM2 (A142T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955563	NM_013296.5(GPSM2):c.438C>T (p.Tyr146=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662245	NM_013296.5(GPSM2):c.455A>C (p.Tyr152Ser)	GPSM2 (Y152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564923	NM_013296.5(GPSM2):c.459T>C (p.His153=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180034	NM_013296.5(GPSM2):c.459_460del (p.Ala154fs)	GPSM2 (A154fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 618146	NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg)	GPSM2 (G160R)	Single nucleotide variant (missense variant)	Chudley-McCullough syndrome	GUncertain significance
Select item 500059	NM_013296.5(GPSM2):c.485del (p.Pro162fs)	GPSM2 (P162fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 729626	NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys)	GPSM2 (E169K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 424343	NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)	GPSM2 (E173del)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45569	NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr)	GPSM2 (A177T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1068248	NM_013296.5(GPSM2):c.557+2T>C	GPSM2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1025053	NM_013296.5(GPSM2):c.557+3G>C	GPSM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 260281	NM_013296.5(GPSM2):c.557+17A>G	GPSM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 510715	NM_013296.5(GPSM2):c.558-11C>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947672	NM_013296.5(GPSM2):c.558-9A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729513	NM_013296.5(GPSM2):c.558-7C>T	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998033	NM_013296.5(GPSM2):c.580G>T (p.Ala194Ser)	GPSM2 (A194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 178375	NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln)	GPSM2 (R198Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285400	NM_013296.5(GPSM2):c.596C>T (p.Ala199Val)	GPSM2 (A199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875531	NM_013296.5(GPSM2):c.597G>A (p.Ala199=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1329534	NM_013296.5(GPSM2):c.605G>A (p.Gly202Glu)	GPSM2 (G202E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578100	NM_013296.5(GPSM2):c.622C>T (p.Leu208Phe)	GPSM2 (L208F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517155	NM_013296.5(GPSM2):c.624T>C (p.Leu208=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1631047	NM_013296.5(GPSM2):c.636T>C (p.His212=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314463	NM_013296.5(GPSM2):c.668T>C (p.Ile223Thr)	GPSM2 (I223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479899	NM_013296.5(GPSM2):c.674A>C (p.His225Pro)	GPSM2 (H225P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2674617	NM_013296.5(GPSM2):c.681+1G>A	GPSM2	Single nucleotide variant (splice donor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 2758643	NM_013296.5(GPSM2):c.681+2del	GPSM2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2972213	NM_013296.5(GPSM2):c.681+11A>G	GPSM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 291701	NM_013296.5(GPSM2):c.683G>A (p.Arg228His)	GPSM2 (R228H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1578738	NM_013296.5(GPSM2):c.690T>G (p.Leu230=)	GPSM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780773	NM_013296.5(GPSM2):c.697A>G (p.Lys233Glu)	GPSM2 (K233E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1342063	NM_013296.5(GPSM2):c.731C>T (p.Ala244Val)	GPSM2 (A244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 517394	NM_013296.5(GPSM2):c.732A>G (p.Ala244=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 35492	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2 (G249fs)	Deletion (frameshift variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 45570	NM_013296.5(GPSM2):c.753A>G (p.Ala251=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 505420	NM_013296.5(GPSM2):c.765T>G (p.Leu255=)	GPSM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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