26012[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +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 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 1281455	NM_001130969.3(NSMF):c.*256C>T	NSMF	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2482996	NM_001130969.3(NSMF):c.1585G>T (p.Val529Phe)	LOC126860797, NSMF (V504F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237510	NM_001130969.3(NSMF):c.1585G>A (p.Val529Ile)	LOC126860797, NSMF (V504I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1590699	NM_001130969.3(NSMF):c.1581C>T (p.Asp527=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3202392	NM_001130969.3(NSMF):c.1552C>T (p.Arg518Cys)	LOC126860797, NSMF (R493C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797106	NM_001130969.3(NSMF):c.1524C>T (p.Asp508=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191340	NM_001130969.3(NSMF):c.1515G>A (p.Thr505=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415212	NM_001130969.3(NSMF):c.1496-7C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781936	NM_001130969.3(NSMF):c.1496-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673559	NM_001130969.3(NSMF):c.1495+41G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194414	NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)	NSMF, LOC126860797	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2524	NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala)	LOC126860797, NSMF (T480A +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	Grisk factor
Select item 976066	NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly)	LOC126860797, NSMF (R449G +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 2326702	NM_001130969.3(NSMF):c.1430A>G (p.Asn477Ser)	LOC126860797, NSMF (N447S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 673329	NM_001130969.3(NSMF):c.1420-78G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271348	NM_001130969.3(NSMF):c.1419+47C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739920	NM_001130969.3(NSMF):c.1419+3A>G	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426818	NM_001130969.3(NSMF):c.1414G>A (p.Glu472Lys)	LOC126860797, NSMF (E470K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450266	NM_001130969.3(NSMF):c.1404C>A (p.Asn468Lys)	LOC126860797, NSMF (N466K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193385	NM_001130969.3(NSMF):c.1401G>A (p.Gly467=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2474279	NM_001130969.3(NSMF):c.1393A>G (p.Ile465Val)	LOC126860797, NSMF (I463V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2037569	NM_001130969.3(NSMF):c.1368C>T (p.Asn456=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776652	NM_001130969.3(NSMF):c.1350A>G (p.Lys450=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1215926	NM_001130969.3(NSMF):c.1347C>T (p.Ser449=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713118	NM_001130969.3(NSMF):c.1330C>T (p.Leu444=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321474	NM_001130969.3(NSMF):c.1317-64C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987621	NM_001130969.3(NSMF):c.1316+17C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907384	NM_001130969.3(NSMF):c.1316+16C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182417	NM_001130969.3(NSMF):c.1315C>T (p.His439Tyr)	LOC126860797, NSMF (H416Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638190	NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)	LOC126860797, NSMF (L421F +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 516527	NM_001130969.3(NSMF):c.1237-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 743638	NM_001130969.3(NSMF):c.1237-10C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981044	NM_001130969.3(NSMF):c.1237-11G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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