PTPRD[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	INSL4, INSL6 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 1684649	Single allele	LOC130001549, LOC130001550 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	DMRT2, DMRT3 +271 more	Copy number loss	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	LOC121740738, LOC121740739 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	AK3, BRD10 +247 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	LOC130001589, LOC130001590 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	DMRT2, DMRT3 +581 more	Copy number gain	See cases	GPathogenic
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	LOC130001480, LOC130001481 +230 more	Copy number loss	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	LOC130001518, LOC130001519 +233 more	Copy number gain	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	LOC130001443, LOC130001444 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	LOC130001453, LOC130001454 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	LOC113839543, LOC113839544 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	LOC130001462, LOC130001463 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	LOC107882132, LOC108281132 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	DMRT3, DOCK8 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC129929032, LOC130001435 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001450, LOC130001451 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	VLDLR-AS1, AK3 +233 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	LOC126860555, LOC126860556 +233 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	AK3, BRD10 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	ADAMTSL1, AK3 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	AK3, BRD10 +222 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	LOC130001488, LOC130001489 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57027	GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	AK3, BRD10 +204 more	Copy number gain	See cases	GPathogenic
Select item 147561	GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3	AK3, BRD10 +153 more	Copy number gain	See cases	GPathogenic
Select item 147623	GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1	AK3, BRD10 +144 more	Copy number loss	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001651, LOC130001652 +585 more	Copy number gain	See cases	GPathogenic
Select item 148744	GRCh38/hg38 9p24.1-23(chr9:7406754-10757763)x1	DMAC1, LOC105375972 +14 more	Copy number loss	See cases	GUncertain significance
Select item 151917	GRCh38/hg38 9p24.1(chr9:7493625-8937453)x3	DMAC1, LOC107522029 +8 more	Copy number gain	See cases	GLikely benign
Select item 152184	GRCh38/hg38 9p24.1(chr9:8284068-8331541)x1	PTPRD	Copy number loss	See cases	GBenign
Select item 161800	NM_002839.4(PTPRD):c.5692C>T (p.Arg1898Cys)	PTPRD (R1491C +8 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2617128	NM_002839.4(PTPRD):c.5668G>C (p.Glu1890Gln)	PTPRD (E1477Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620245	NM_002839.4(PTPRD):c.5611G>C (p.Asp1871His)	PTPRD (D1455H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218150	NM_002839.4(PTPRD):c.5537C>T (p.Ala1846Val)	PTPRD (A1430V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1247371	NM_002839.4(PTPRD):c.5534+34G>A	PTPRD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504285	NM_002839.4(PTPRD):c.5534+7_5534+8insGTAAGTTACAGTTCAAGAATGGTAA	PTPRD	Insertion (splice donor variant)	not provided	GLikely benign
Select item 1317827	NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTACAGTTCAAGAAT	PTPRD	Insertion (splice donor variant)	not provided	GLikely benign
Select item 227045	NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAT	PTPRD	Insertion (splice donor variant)	not specified	GBenign
Select item 179398	NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAG	PTPRD	Insertion (splice donor variant)	not specified	GUncertain significance
Select item 734322	NM_002839.4(PTPRD):c.5472C>T (p.Ile1824=)	PTPRD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2491634	NM_002839.4(PTPRD):c.5456G>T (p.Gly1819Val)	PTPRD (G1403V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257164	NM_002839.4(PTPRD):c.5240G>T (p.Arg1747Leu)	PTPRD (R1341L +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677296	NM_002839.4(PTPRD):c.5102A>G (p.Asn1701Ser)	PTPRD (N1285S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026296	NM_002839.4(PTPRD):c.5076T>G (p.Arg1692=)	PTPRD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463798	NM_002839.4(PTPRD):c.5032A>G (p.Ile1678Val)	PTPRD (I1271V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782284	NM_002839.4(PTPRD):c.5031T>C (p.Asn1677=)	PTPRD	Single nucleotide variant (synonymous variant)	PTPRD-related condition +1 more	GBenign
Select item 2267819	NM_002839.4(PTPRD):c.4996C>G (p.Leu1666Val)	PTPRD (L1256V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468473	NM_002839.4(PTPRD):c.4949G>A (p.Arg1650His)	PTPRD (R1247H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214513	NM_002839.4(PTPRD):c.4504A>C (p.Lys1502Gln)	PTPRD (K1089Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242381	NM_002839.4(PTPRD):c.4432G>A (p.Gly1478Arg)	PTPRD (G1071R +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355004	NM_002839.4(PTPRD):c.4427C>A (p.Thr1476Asn)	PTPRD (T1069N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723628	NM_002839.4(PTPRD):c.4290A>T (p.Gly1430=)	PTPRD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 784509	NM_002839.4(PTPRD):c.4275T>C (p.Tyr1425=)	PTPRD	Single nucleotide variant (synonymous variant)	PTPRD-related condition +1 more	GBenign
Select item 1225000	NM_002839.4(PTPRD):c.4254G>C (p.Gly1418=)	PTPRD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749109	NM_002839.4(PTPRD):c.4211-8T>C	PTPRD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2521207	NM_002839.4(PTPRD):c.4195C>G (p.Leu1399Val)	PTPRD (L993V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043126	NM_002839.4(PTPRD):c.4161G>A (p.Ala1387=)	PTPRD	Single nucleotide variant (synonymous variant)	PTPRD-related condition	GLikely benign
Select item 783027	NM_002839.4(PTPRD):c.4140C>T (p.Asn1380=)	PTPRD	Single nucleotide variant (synonymous variant)	PTPRD-related condition +1 more	GBenign/Likely benign
Select item 992772	NM_002839.4(PTPRD):c.4078G>A (p.Glu1360Lys)	PTPRD (E1360K +8 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2275021	NM_002839.4(PTPRD):c.4052C>G (p.Ala1351Gly)	PTPRD (A1351G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388709	NM_002839.4(PTPRD):c.3986C>T (p.Pro1329Leu)	PTPRD (P1334L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310101	NM_002839.4(PTPRD):c.3914C>A (p.Pro1305Gln)	PTPRD (P1311Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317785	NM_002839.4(PTPRD):c.3797G>C (p.Gly1266Ala)	PTPRD (G1267A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044711	NM_002839.4(PTPRD):c.3747C>T (p.Pro1249=)	PTPRD	Single nucleotide variant (synonymous variant)	PTPRD-related condition	GLikely benign
Select item 2266471	NM_002839.4(PTPRD):c.3746C>G (p.Pro1249Arg)	PTPRD (P1250R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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