5152[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066769, LOC130066770 +45 more	Duplication	Primary ciliary dyskinesia	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 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 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 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 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 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 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 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 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 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 2556745	NM_002606.3(PDE9A):c.225G>A (p.Pro75=)	PDE9A (V101I +2 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 91942	NM_002606.3(PDE9A):c.1085+1G>A	PDE9A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2554980	NM_002606.3(PDE9A):c.1086G>T (p.Thr362=)	PDE9A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 774746	NM_002606.3(PDE9A):c.1679T>G (p.Met560Arg)	PDE9A (M353R +15 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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

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