ENTPD8[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 170

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	ARRDC1, ARRDC1-AS1 +71 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 151947	GRCh38/hg38 9q34.3(chr9:137345965-137447506)x3	ENTPD8, EXD3 +9 more	Copy number gain	See cases	GLikely benign
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 151395	GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3	ARRDC1, ARRDC1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	ARRDC1, ARRDC1-AS1 +44 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	ARRDC1, ARRDC1-AS1 +32 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3089127	NM_001033113.2(ENTPD8):c.1435C>G (p.Leu479Val)	ENTPD8 (L479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353812	NM_001033113.2(ENTPD8):c.1390A>C (p.Ser464Arg)	ENTPD8 (S427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268409	NM_001033113.2(ENTPD8):c.1382G>A (p.Arg461Gln)	ENTPD8 (R424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519288	NM_001033113.2(ENTPD8):c.1376A>G (p.Gln459Arg)	ENTPD8 (Q459R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089126	NM_001033113.2(ENTPD8):c.1372G>T (p.Ala458Ser)	ENTPD8 (A421S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211199	NM_001033113.2(ENTPD8):c.1358C>T (p.Pro453Leu)	ENTPD8 (P416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605438	NM_001033113.2(ENTPD8):c.1346C>T (p.Thr449Ile)	ENTPD8 (T449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455352	NM_001033113.2(ENTPD8):c.1325T>C (p.Leu442Pro)	ENTPD8 (L405P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316864	NM_001033113.2(ENTPD8):c.1274C>G (p.Pro425Arg)	ENTPD8 (P388R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263892	NM_001033113.2(ENTPD8):c.1266G>T (p.Glu422Asp)	ENTPD8 (E385D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275559	NM_001033113.2(ENTPD8):c.1252G>A (p.Gly418Arg)	ENTPD8 (G418R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089125	NM_001033113.2(ENTPD8):c.1225A>C (p.Ile409Leu)	ENTPD8 (I372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089124	NM_001033113.2(ENTPD8):c.1199G>A (p.Arg400Gln)	ENTPD8 (R363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089123	NM_001033113.2(ENTPD8):c.1196T>C (p.Leu399Pro)	ENTPD8 (L399P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089122	NM_001033113.2(ENTPD8):c.1120A>G (p.Asn374Asp)	ENTPD8 (N374D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089121	NM_001033113.2(ENTPD8):c.1115C>T (p.Thr372Met)	ENTPD8 (T372M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089120	NM_001033113.2(ENTPD8):c.1073C>T (p.Thr358Ile)	ENTPD8 (T358I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089119	NM_001033113.2(ENTPD8):c.1052C>T (p.Ala351Val)	ENTPD8 (A351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776486	NM_001033113.2(ENTPD8):c.1050+8C>T	ENTPD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3089118	NM_001033113.2(ENTPD8):c.1049A>G (p.Tyr350Cys)	ENTPD8 (Y350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352366	NM_001033113.2(ENTPD8):c.1031C>G (p.Pro344Arg)	ENTPD8 (P344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608405	NM_001033113.2(ENTPD8):c.1006G>A (p.Ala336Thr)	ENTPD8 (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335553	NM_001033113.2(ENTPD8):c.962G>A (p.Arg321Gln)	ENTPD8 (R321Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386796	NM_001033113.2(ENTPD8):c.961C>T (p.Arg321Trp)	ENTPD8 (R321W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349440	NM_001033113.2(ENTPD8):c.949G>A (p.Val317Ile)	ENTPD8 (V317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605439	NM_001033113.2(ENTPD8):c.938C>G (p.Pro313Arg)	ENTPD8 (P313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089133	NM_001033113.2(ENTPD8):c.912C>A (p.Asn304Lys)	ENTPD8 (N304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473652	NM_001033113.2(ENTPD8):c.901C>A (p.Leu301Ile)	ENTPD8 (L301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240238	NM_001033113.2(ENTPD8):c.871C>T (p.Pro291Ser)	ENTPD8 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396811	NM_001033113.2(ENTPD8):c.829G>A (p.Gly277Ser)	ENTPD8 (G277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089132	NM_001033113.2(ENTPD8):c.809G>A (p.Arg270His)	ENTPD8 (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376523	NM_001033113.2(ENTPD8):c.794C>T (p.Pro265Leu)	ENTPD8 (P265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2