2902[geneid] - 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	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 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	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 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 1198978	NM_007327.4(GRIN1):c.-288CCG[5]	GRIN1	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 383437	NM_007327.4(GRIN1):c.-35C>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 384548	NM_007327.4(GRIN1):c.-29G>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 391943	NM_007327.4(GRIN1):c.-24G>A	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 508667	NM_007327.4(GRIN1):c.-16C>T	GRIN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 539839	NM_007327.4(GRIN1):c.1A>T (p.Met1Leu)	GRIN1 (M1L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2028111	NM_007327.4(GRIN1):c.2T>C (p.Met1Thr)	GRIN1 (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1703385	NM_007327.4(GRIN1):c.5G>A (p.Ser2Asn)	GRIN1 (S2N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117332	NM_007327.4(GRIN1):c.9C>T (p.Thr3=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 3336511	NM_007327.4(GRIN1):c.13C>T (p.Arg5Cys)	GRIN1 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773981	NM_007327.4(GRIN1):c.14G>A (p.Arg5His)	GRIN1 (R5H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GUncertain significance
Select item 562038	NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)	GRIN1 (T8P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +1 more	GBenign/Likely benign
Select item 2104375	NM_007327.4(GRIN1):c.23C>T (p.Thr8Met)	GRIN1 (T8M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 959066	NM_007327.4(GRIN1):c.35T>C (p.Leu12Pro)	GRIN1 (L12P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 726042	NM_007327.4(GRIN1):c.36G>C (p.Leu12=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1004101	NM_007327.4(GRIN1):c.41_43del (p.Ser14del)	GRIN1 (S14del)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2914544	NM_007327.4(GRIN1):c.41C>T (p.Ser14Phe)	GRIN1 (S14F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2853015	NM_007327.4(GRIN1):c.60C>G (p.Ala20=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 509224	NM_007327.4(GRIN1):c.63G>A (p.Ala21=)	GRIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 388209	NM_007327.4(GRIN1):c.66C>T (p.Cys22=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1082537	NM_007327.4(GRIN1):c.78C>T (p.Ile26=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3067992	NM_007327.4(GRIN1):c.80T>G (p.Val27Gly)	GRIN1 (V27G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1764732	NM_007327.4(GRIN1):c.87T>C (p.Ile29=)	GRIN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2074663	NM_007327.4(GRIN1):c.92C>A (p.Ala31Glu)	GRIN1 (A31E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1304486	NM_007327.4(GRIN1):c.103A>G (p.Thr35Ala)	GRIN1 (T35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385286	NM_007327.4(GRIN1):c.105G>A (p.Thr35=)	GRIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3017928	NM_007327.4(GRIN1):c.114C>T (p.His38=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2119508	NM_007327.4(GRIN1):c.118C>T (p.Gln40Ter)	GRIN1 (Q40*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 8	GPathogenic
Select item 2778597	NM_007327.4(GRIN1):c.123G>A (p.Met41Ile)	GRIN1 (M41I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2816897	NM_007327.4(GRIN1):c.128G>T (p.Arg43Leu)	GRIN1 (R43L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1934032	NM_007327.4(GRIN1):c.129C>T (p.Arg43=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2812522	NM_007327.4(GRIN1):c.134C>T (p.Ala45Val)	GRIN1 (A45V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1599714	NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr)	GRIN1 (N47Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 472572	NM_007327.4(GRIN1):c.152A>G (p.Lys51Arg)	GRIN1 (K51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2117298	NM_007327.4(GRIN1):c.154C>A (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 539838	NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly)	GRIN1 (R52G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GBenign
Select item 3006883	NM_007327.4(GRIN1):c.155G>A (p.Arg52Gln)	GRIN1 (R52Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 1592976	NM_007327.4(GRIN1):c.155G>C (p.Arg52Pro)	GRIN1 (R52P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2888194	NM_007327.4(GRIN1):c.156G>A (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 2700857	NM_007327.4(GRIN1):c.156G>C (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign
Select item 1568945	NM_007327.4(GRIN1):c.156G>T (p.Arg52=)	GRIN1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 8	GLikely benign

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