LINC02908[gene] - 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 152149	GRCh38/hg38 9q34.3(chr9:137025210-137048081)x3	ABCA2, FUT7 +3 more	Copy number gain	See cases	GBenign
Select item 3065045	NM_001606.5(ABCA2):c.42C>G (p.Asn14Lys)	ABCA2, LINC02908 (N14K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 2411948	NM_212533.3(ABCA2):c.125G>A (p.Arg42Gln)	ABCA2, LINC02908 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1309927	NM_212533.3(ABCA2):c.96del (p.Phe33fs)	ABCA2, LINC02908 (F33fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3370778	NM_212533.3(ABCA2):c.92C>T (p.Pro31Leu)	ABCA2, LINC02908 (P31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242031	NM_212533.3(ABCA2):c.79G>C (p.Gly27Arg)	ABCA2, LINC02908 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249256	NM_212533.3(ABCA2):c.60T>C (p.Ala20=)	ABCA2, LINC02908	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659794	NM_212533.3(ABCA2):c.6G>A (p.Gly2=)	ABCA2, LINC02908	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785303	NM_212533.3(ABCA2):c.1A>G (p.Met1Val)	ABCA2, LINC02908 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3280214	NM_004479.4(FUT7):c.1012G>A (p.Gly338Ser)	FUT7, LINC02908 (G338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553590	NM_004479.4(FUT7):c.971A>T (p.Tyr324Phe)	FUT7, LINC02908 (Y324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770201	NM_004479.4(FUT7):c.970T>C (p.Tyr324His)	FUT7, LINC02908 (Y324H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2280803	NM_004479.4(FUT7):c.958A>C (p.Ile320Leu)	FUT7, LINC02908 (I320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324647	NM_004479.4(FUT7):c.940C>T (p.Arg314Trp)	FUT7, LINC02908 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280219	NM_004479.4(FUT7):c.934G>A (p.Asp312Asn)	FUT7, LINC02908 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280218	NM_004479.4(FUT7):c.919G>A (p.Val307Met)	FUT7, LINC02908 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280217	NM_004479.4(FUT7):c.905G>A (p.Arg302His)	FUT7, LINC02908 (R302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542863	NM_004479.4(FUT7):c.893T>G (p.Phe298Cys)	FUT7, LINC02908 (F298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390405	NM_004479.4(FUT7):c.881G>A (p.Arg294Gln)	FUT7, LINC02908 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590581	NM_004479.4(FUT7):c.847C>G (p.Leu283Val)	FUT7, LINC02908 (L283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295731	NM_004479.4(FUT7):c.827A>G (p.Asp276Gly)	FUT7, LINC02908 (D276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549981	NM_004479.4(FUT7):c.749C>T (p.Thr250Ile)	FUT7, LINC02908 (T250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713946	NM_004479.4(FUT7):c.745G>A (p.Gly249Ser)	FUT7, LINC02908 (G249S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2337605	NM_004479.4(FUT7):c.728G>C (p.Arg243Pro)	FUT7, LINC02908 (R243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508502	NM_004479.4(FUT7):c.713C>T (p.Thr238Met)	FUT7, LINC02908 (T238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400814	NM_004479.4(FUT7):c.668G>A (p.Arg223His)	FUT7, LINC02908 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097533	NM_004479.4(FUT7):c.634G>A (p.Ala212Thr)	FUT7, LINC02908 (A212T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549386	NM_004479.4(FUT7):c.610C>T (p.Arg204Cys)	FUT7, LINC02908 (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097530	NM_004479.4(FUT7):c.601G>A (p.Val201Ile)	FUT7, LINC02908 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457239	NM_004479.4(FUT7):c.595G>A (p.Val199Met)	FUT7, LINC02908 (V199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460188	NM_004479.4(FUT7):c.592C>T (p.Arg198Trp)	FUT7, LINC02908 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324526	NM_004479.4(FUT7):c.581C>T (p.Ala194Val)	FUT7, LINC02908 (A194V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097529	NM_004479.4(FUT7):c.580G>A (p.Ala194Thr)	FUT7, LINC02908 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271352	NM_004479.4(FUT7):c.494C>T (p.Pro165Leu)	FUT7, LINC02908 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280213	NM_004479.4(FUT7):c.488C>T (p.Ser163Leu)	FUT7, LINC02908 (S163L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596558	NM_004479.4(FUT7):c.463C>T (p.Arg155Cys)	FUT7, LINC02908 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213249	NM_004479.4(FUT7):c.436G>A (p.Asp146Asn)	FUT7, LINC02908 (D146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097528	NM_004479.4(FUT7):c.434G>A (p.Arg145His)	FUT7, LINC02908 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391124	NM_004479.4(FUT7):c.302G>A (p.Arg101Gln)	FUT7, LINC02908 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341359	NM_004479.4(FUT7):c.271G>A (p.Val91Met)	FUT7, LINC02908 (V91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280215	NM_004479.4(FUT7):c.245G>A (p.Arg82Gln)	FUT7, LINC02908 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316433	NM_004479.4(FUT7):c.242A>G (p.Asn81Ser)	FUT7, LINC02908 (N81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272304	NM_004479.4(FUT7):c.233T>G (p.Leu78Arg)	FUT7, LINC02908 (L78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097527	NM_004479.4(FUT7):c.224G>A (p.Arg75His)	FUT7, LINC02908 (R75H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280222	NM_004479.4(FUT7):c.197A>T (p.Asp66Val)	FUT7, LINC02908 (D66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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