8778[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 153466	GRCh38/hg38 12p12.2(chr12:20349065-20561597)x1	LOC124625920, LOC124625921 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1234823	NM_000921.5(PDE3A):c.-103CGTG[4]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1269003	NM_000921.5(PDE3A):c.-93TG[11]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1241874	NM_000921.5(PDE3A):c.-93TG[8]	PDE3A, PDE3A-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 3037518	NM_000921.5(PDE3A):c.-6T>G	PDE3A, PDE3A-AS1	Single nucleotide variant (5 prime UTR variant)	PDE3A-related disorder	GBenign
Select item 1988732	NM_000921.5(PDE3A):c.5C>T (p.Ala2Val)	PDE3A, PDE3A-AS1 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160171	NM_000921.5(PDE3A):c.24A>G (p.Ala8=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3210671	NM_000921.5(PDE3A):c.25C>G (p.Arg9Gly)	PDE3A, PDE3A-AS1 (R9G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1221712	NM_000921.5(PDE3A):c.34G>A (p.Asp12Asn)	PDE3A, PDE3A-AS1 (D12N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2516668	NM_000921.5(PDE3A):c.46C>T (p.His16Tyr)	PDE3A, PDE3A-AS1 (H16Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2721557	NM_000921.5(PDE3A):c.73G>A (p.Ala25Thr)	PDE3A, PDE3A-AS1 (A25T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2550172	NM_000921.5(PDE3A):c.77G>A (p.Gly26Asp)	PDE3A, PDE3A-AS1 (G26D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530885	NM_000921.5(PDE3A):c.80G>A (p.Arg27Gln)	PDE3A, PDE3A-AS1 (R27Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495602	NM_000921.5(PDE3A):c.91C>T (p.His31Tyr)	PDE3A, PDE3A-AS1 (H31Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249061	NM_000921.5(PDE3A):c.103C>T (p.Pro35Ser)	PDE3A, PDE3A-AS1 (P35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1358233	NM_000921.5(PDE3A):c.141G>A (p.Trp47Ter)	PDE3A-AS1, PDE3A (W47*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2489017	NM_000921.5(PDE3A):c.169A>G (p.Ser57Gly)	PDE3A, PDE3A-AS1 (S57G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1933394	NM_000921.5(PDE3A):c.200C>T (p.Ala67Val)	PDE3A, PDE3A-AS1 (A67V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3027349	NM_000921.5(PDE3A):c.212C>G (p.Ser71Cys)	PDE3A, PDE3A-AS1 (S71C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3210670	NM_000921.5(PDE3A):c.230T>A (p.Leu77Gln)	PDE3A, PDE3A-AS1 (L77Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717258	NM_000921.5(PDE3A):c.231G>A (p.Leu77=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2315386	NM_000921.5(PDE3A):c.242T>C (p.Val81Ala)	PDE3A, PDE3A-AS1 (V81A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2046242	NM_000921.5(PDE3A):c.246C>T (p.Arg82=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711959	NM_000921.5(PDE3A):c.269A>G (p.Glu90Gly)	PDE3A, PDE3A-AS1 (E90G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2769316	NM_000921.5(PDE3A):c.284CGG[5] (p.Ala98_Glu99insAla)	PDE3A, PDE3A-AS1	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2718642	NM_000921.5(PDE3A):c.285G>A (p.Ala95=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2060680	NM_000921.5(PDE3A):c.293C>A (p.Ala98Glu)	LOC124625920, PDE3A +1 more (A98E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365719	NM_000921.5(PDE3A):c.293C>G (p.Ala98Gly)	LOC124625920, PDE3A +1 more (A98G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778443	NM_000921.5(PDE3A):c.296A>C (p.Glu99Ala)	LOC124625920, PDE3A +1 more (E99A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3210673	NM_000921.5(PDE3A):c.311C>T (p.Ala104Val)	LOC124625920, PDE3A +1 more (A104V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717311	NM_000921.5(PDE3A):c.318A>G (p.Gly106=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3000906	NM_000921.5(PDE3A):c.324A>G (p.Glu108=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957200	NM_000921.5(PDE3A):c.340G>A (p.Gly114Arg)	LOC124625920, PDE3A +1 more (G114R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3210677	NM_000921.5(PDE3A):c.344C>G (p.Pro115Arg)	LOC124625920, PDE3A +1 more (P115R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2888340	NM_000921.5(PDE3A):c.381C>T (p.Ser127=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3336929	NM_000921.5(PDE3A):c.401C>T (p.Ala134Val)	LOC124625920, PDE3A +1 more (A134V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1595223	NM_000921.5(PDE3A):c.402G>T (p.Ala134=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2888997	NM_000921.5(PDE3A):c.419T>A (p.Leu140Gln)	LOC124625920, PDE3A +1 more (L140Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2345169	NM_000921.5(PDE3A):c.438G>A (p.Met146Ile)	LOC124625920, PDE3A +1 more (M146I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636461	NM_000921.5(PDE3A):c.454C>A (p.Arg152Ser)	LOC124625920, PDE3A +1 more (R152S)	Single nucleotide variant (missense variant +1 more)	PDE3A-related disorder	GUncertain significance
Select item 2616825	NM_000921.5(PDE3A):c.458C>T (p.Ala153Val)	LOC124625920, PDE3A +1 more (A153V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2058625	NM_000921.5(PDE3A):c.459C>T (p.Ala153=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168010	NM_000921.5(PDE3A):c.465G>A (p.Val155=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3305373	NM_000921.5(PDE3A):c.494C>A (p.Ala165Asp)	LOC124625920, PDE3A +1 more (A165D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1432201	NM_000921.5(PDE3A):c.511dup (p.Glu171fs)	LOC124625920, PDE3A +1 more (E171fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1548934	NM_000921.5(PDE3A):c.505G>T (p.Gly169Trp)	PDE3A, PDE3A-AS1 +1 more (G169W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2885180	NM_000921.5(PDE3A):c.506G>T (p.Gly169Val)	LOC124625920, PDE3A +1 more (G169V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2072829	NM_000921.5(PDE3A):c.506G>C (p.Gly169Ala)	LOC124625920, PDE3A +1 more (G169A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2884612	NM_000921.5(PDE3A):c.507G>C (p.Gly169=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2434623	NM_000921.5(PDE3A):c.507G>T (p.Gly169=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	Brachydactyly-arterial hypertension syndrome	GUncertain significance
Select item 794569	NM_000921.5(PDE3A):c.519C>A (p.Leu173=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539172	NM_000921.5(PDE3A):c.569C>T (p.Ala190Val)	LOC124625920, PDE3A +1 more (A190V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598108	NM_000921.5(PDE3A):c.575G>A (p.Gly192Glu)	PDE3A, PDE3A-AS1 +1 more (G192E)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2093908	NM_000921.5(PDE3A):c.577G>C (p.Val193Leu)	LOC124625920, PDE3A +1 more (V193L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 717627	NM_000921.5(PDE3A):c.578T>C (p.Val193Ala)	LOC124625920, PDE3A +1 more (V193A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2168256	NM_000921.5(PDE3A):c.585C>T (p.Leu195=)	LOC124625920, PDE3A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2601488	NM_000921.5(PDE3A):c.593T>G (p.Leu198Trp)	PDE3A, PDE3A-AS1 (L198W)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310220	NM_000921.5(PDE3A):c.596C>T (p.Ala199Val)	PDE3A, PDE3A-AS1 (A199V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271456	NM_000921.5(PDE3A):c.609G>T (p.Trp203Cys)	PDE3A, PDE3A-AS1 (W203C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2060477	NM_000921.5(PDE3A):c.617T>C (p.Leu206Pro)	PDE3A, PDE3A-AS1 (L206P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059315	NM_000921.5(PDE3A):c.633C>T (p.Gly211=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3305370	NM_000921.5(PDE3A):c.634G>C (p.Val212Leu)	PDE3A, PDE3A-AS1 (V212L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514267	NM_000921.5(PDE3A):c.640A>G (p.Met214Val)	PDE3A, PDE3A-AS1 (M214V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 789807	NM_000921.5(PDE3A):c.660G>T (p.Ala220=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2222586	NM_000921.5(PDE3A):c.661G>A (p.Val221Ile)	PDE3A, PDE3A-AS1 (V221I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305369	NM_000921.5(PDE3A):c.673T>C (p.Ser225Pro)	PDE3A, PDE3A-AS1 (S225P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2394331	NM_000921.5(PDE3A):c.695T>A (p.Phe232Tyr)	PDE3A, PDE3A-AS1 (F232Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272160	NM_000921.5(PDE3A):c.703G>T (p.Ala235Ser)	PDE3A, PDE3A-AS1 (A235S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2118771	NM_000921.5(PDE3A):c.718C>G (p.Leu240Val)	PDE3A, PDE3A-AS1 (L240V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 739251	NM_000921.5(PDE3A):c.732C>T (p.Ala244=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2738842	NM_000921.5(PDE3A):c.761A>G (p.Tyr254Cys)	PDE3A, PDE3A-AS1 (Y254C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2321507	NM_000921.5(PDE3A):c.782A>G (p.Gln261Arg)	PDE3A, PDE3A-AS1 (Q261R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496567	NM_000921.5(PDE3A):c.787G>A (p.Ala263Thr)	PDE3A, PDE3A-AS1 (A263T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 795874	NM_000921.5(PDE3A):c.792G>A (p.Glu264=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897947	NM_000921.5(PDE3A):c.803G>A (p.Arg268Lys)	PDE3A, PDE3A-AS1 (R268K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2615047	NM_000921.5(PDE3A):c.838A>C (p.Lys280Gln)	PDE3A, PDE3A-AS1 (K280Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254780	NM_000921.5(PDE3A):c.846T>A (p.Asp282Glu)	PDE3A, PDE3A-AS1 (D282E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2024874	NM_000921.5(PDE3A):c.875C>G (p.Ser292Cys)	PDE3A, PDE3A-AS1 (S292C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1898483	NM_000921.5(PDE3A):c.876C>T (p.Ser292=)	PDE3A, PDE3A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1704509	NM_000921.5(PDE3A):c.905G>A (p.Gly302Asp)	PDE3A, PDE3A-AS1 (G302D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325299	NM_000921.5(PDE3A):c.920C>T (p.Ser307Phe)	PDE3A, PDE3A-AS1 (S307F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210679	NM_000921.5(PDE3A):c.931A>G (p.Thr311Ala)	PDE3A, PDE3A-AS1 (T311A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2976010	NM_000921.5(PDE3A):c.946A>G (p.Ile316Val)	PDE3A, PDE3A-AS1 (I316V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1989337	NM_000921.5(PDE3A):c.960+20C>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182350	NM_000921.5(PDE3A):c.960+155dup	PDE3A	Duplication (intron variant)	not provided	GBenign
Select item 1275966	NM_000921.5(PDE3A):c.960+165del	PDE3A	Deletion (intron variant)	not provided	GBenign
Select item 1268020	NM_000921.5(PDE3A):c.960+165G>T	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236310	NM_000921.5(PDE3A):c.960+166T>G	PDE3A	Single nucleotide variant (intron variant)	not provided	GBenign

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