ClinVar for Gene (Select 5152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305436	NM_002606.3(PDE9A):c.107T>G (p.Met36Arg)	PDE9A (M36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3305435	NM_002606.3(PDE9A):c.171C>T (p.Asp57=)	PDE9A (R34*)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3305434	NM_002606.3(PDE9A):c.706C>T (p.Pro236Ser)	PDE9A (P150S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305433	NM_002606.3(PDE9A):c.1313A>T (p.Lys438Ile)	PDE9A (K278I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3210812	NM_002606.3(PDE9A):c.904G>A (p.Val302Ile)	PDE9A (V142I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210811	NM_002606.3(PDE9A):c.841G>C (p.Asp281His)	PDE9A (D153H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210810	NM_002606.3(PDE9A):c.83A>C (p.Lys28Thr)	PDE9A (K28T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210809	NM_002606.3(PDE9A):c.787G>A (p.Val263Ile)	PDE9A (V103I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210807	NM_002606.3(PDE9A):c.611A>G (p.Asp204Gly)	PDE9A (D103G +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210806	NM_002606.3(PDE9A):c.511A>G (p.Asn171Asp)	PDE9A (N104D +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210805	NM_002606.3(PDE9A):c.311G>C (p.Arg104Thr)	PDE9A (R63T +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3210804	NM_002606.3(PDE9A):c.238C>G (p.Pro80Ala)	PDE9A (P13A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210803	NM_002606.3(PDE9A):c.190G>A (p.Asp64Asn)	PDE9A (D23N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210802	NM_002606.3(PDE9A):c.1764T>A (p.Ser588Arg)	PDE9A (S371R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210801	NM_002606.3(PDE9A):c.168C>T (p.Thr56=)	PDE9A (R33*)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3210800	NM_002606.3(PDE9A):c.1675G>A (p.Ala559Thr)	PDE9A (A342T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210799	NM_002606.3(PDE9A):c.147G>A (p.Thr49=)	PDE9A (D26N)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3210798	NM_002606.3(PDE9A):c.1440A>T (p.Leu480Phe)	PDE9A (L273F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210797	NM_002606.3(PDE9A):c.1274T>C (p.Met425Thr)	PDE9A (M317T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210796	NM_002606.3(PDE9A):c.1103G>A (p.Arg368His)	PDE9A (R161H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684918	GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3	CBS, CRYAA +11 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2620726	NM_002606.3(PDE9A):c.1363A>G (p.Met455Val)	PDE9A (M295V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616383	NM_002606.3(PDE9A):c.577C>A (p.Leu193Ile)	PDE9A (L152I +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608601	NM_002606.3(PDE9A):c.1019C>T (p.Thr340Met)	PDE9A (T340M +15 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603400	NM_002606.3(PDE9A):c.1250T>A (p.Ile417Asn)	PDE9A (I309N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556745	NM_002606.3(PDE9A):c.225G>A (p.Pro75=)	PDE9A (V101I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2554980	NM_002606.3(PDE9A):c.1086G>T (p.Thr362=)	PDE9A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2545304	NM_002606.3(PDE9A):c.1134C>G (p.Ile378Met)	PDE9A (I250M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542961	NM_002606.3(PDE9A):c.59G>A (p.Arg20His)	PDE9A (A3T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508293	NM_002606.3(PDE9A):c.172G>A (p.Asp58Asn)	PDE9A (D17N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508030	NM_002606.3(PDE9A):c.478G>A (p.Val160Ile)	PDE9A (V119I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483094	NM_002606.3(PDE9A):c.900C>G (p.Phe300Leu)	PDE9A (F140L +15 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474166	NM_002606.3(PDE9A):c.293G>A (p.Arg98His)	PDE9A (R31H +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2411042	NM_002606.3(PDE9A):c.779C>T (p.Thr260Ile)	PDE9A (T132I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406907	NM_002606.3(PDE9A):c.175G>A (p.Ala59Thr)	PDE9A (A59T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404992	NM_002606.3(PDE9A):c.715G>A (p.Asp239Asn)	PDE9A (D105N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396786	NM_002606.3(PDE9A):c.560G>A (p.Arg187His)	PDE9A (R85H +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394302	NM_002606.3(PDE9A):c.1403G>A (p.Arg468His)	PDE9A (R340H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392576	NM_002606.3(PDE9A):c.169G>A (p.Asp57Asn)	PDE9A (D16N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386420	NM_002606.3(PDE9A):c.466G>A (p.Val156Met)	PDE9A (V115M +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381132	NM_002606.3(PDE9A):c.578T>C (p.Leu193Pro)	PDE9A (L133P +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374414	NM_002606.3(PDE9A):c.1043C>T (p.Ala348Val)	PDE9A (A141V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347144	NM_002606.3(PDE9A):c.1753G>A (p.Val585Met)	PDE9A (V368M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331272	NM_002606.3(PDE9A):c.1159G>A (p.Ala387Thr)	PDE9A (A227T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304971	NM_002606.3(PDE9A):c.1749A>C (p.Arg583Ser)	PDE9A (R456S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293158	NM_002606.3(PDE9A):c.1663C>T (p.Arg555Trp)	PDE9A (R338W +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285370	NM_002606.3(PDE9A):c.1526A>C (p.Lys509Thr)	PDE9A (K381T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278468	NM_002606.3(PDE9A):c.851T>A (p.Leu284Gln)	PDE9A (L124Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273636	NM_002606.3(PDE9A):c.1352C>T (p.Thr451Ile)	PDE9A (T244I +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272904	NM_002606.3(PDE9A):c.1469G>A (p.Arg490His)	PDE9A (R437H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263767	NM_002606.3(PDE9A):c.352C>T (p.Arg118Trp)	PDE9A (R92W +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2252004	NM_002606.3(PDE9A):c.1096A>G (p.Asn366Asp)	PDE9A (N238D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224344	NM_002606.3(PDE9A):c.724A>G (p.Thr242Ala)	PDE9A (T189A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209531	NM_002606.3(PDE9A):c.1045G>A (p.Ala349Thr)	PDE9A (A241T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	AGPAT3, PDXK +74 more	Duplication	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	AGPAT3, AIRE +47 more	Duplication	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816174	GRCh37/hg19 21q22.3(chr21:43945335-44153298)x3	SLC37A1, PDE9A	Copy number gain	not provided	GUncertain significance
Select item 816173	GRCh37/hg19 21q22.3(chr21:43822539-44974001)x3	HSF2BP, SLC37A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 774746	NM_002606.3(PDE9A):c.1679T>G (p.Met560Arg)	PDE9A (M353R +15 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730632	NM_002606.3(PDE9A):c.1180G>A (p.Ala394Thr)	PDE9A (A187T +15 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 685891	GRCh37/hg19 21q22.3(chr21:44153297-44447722)x3	NDUFV3, PDE9A +2 more	Copy number gain	not provided	GUncertain significance
Select item 647965	NC_000021.8:g.(?_43892908)_(45629566_?)del	RSPH1, SIK1 +17 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066749, LOC130066750 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 454509	NC_000021.8:g.(?_43892908)_(45629566_?)dup	HSF2BP, NDUFV3 +17 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic

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