DAB2IP[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 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	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 2351210	NM_001395010.1(DAB2IP):c.152G>T (p.Arg51Leu)	DAB2IP (R23L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229904	NM_001395010.1(DAB2IP):c.152G>A (p.Arg51Gln)	DAB2IP (R51Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079895	NM_001395010.1(DAB2IP):c.192C>A (p.Ser64Arg)	DAB2IP (S36R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717555	NM_001395010.1(DAB2IP):c.204G>C (p.Ser68=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270791	NM_001395010.1(DAB2IP):c.221G>T (p.Arg74Leu)	DAB2IP (R74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354502	NM_001395010.1(DAB2IP):c.227C>T (p.Thr76Met)	DAB2IP (T76M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465449	NM_001395010.1(DAB2IP):c.229G>A (p.Gly77Ser)	DAB2IP (G49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781934	NM_001395010.1(DAB2IP):c.291C>T (p.Asp97=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3270781	NM_001395010.1(DAB2IP):c.338C>T (p.Ala113Val)	DAB2IP (A85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297914	NM_001395010.1(DAB2IP):c.341C>T (p.Ala114Val)	DAB2IP (A114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270785	NM_001395010.1(DAB2IP):c.356A>G (p.Asn119Ser)	DAB2IP (N119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659479	NM_001395010.1(DAB2IP):c.363-19312G>A	DAB2IP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735147	NM_001395010.1(DAB2IP):c.378G>A (p.Pro126=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589191	NM_001395010.1(DAB2IP):c.403G>A (p.Glu135Lys)	DAB2IP (E135K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079907	NM_001395010.1(DAB2IP):c.427G>T (p.Ala143Ser)	DAB2IP (A115S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079908	NM_001395010.1(DAB2IP):c.428C>T (p.Ala143Val)	DAB2IP (A143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294182	NM_001395010.1(DAB2IP):c.503A>G (p.Asp168Gly)	DAB2IP (D140G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079909	NM_001395010.1(DAB2IP):c.517G>A (p.Val173Met)	DAB2IP (V145M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480664	NM_001395010.1(DAB2IP):c.524C>T (p.Thr175Met)	DAB2IP (T51M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337287	NM_001395010.1(DAB2IP):c.569G>A (p.Arg190Gln)	DAB2IP (R190Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270779	NM_001395010.1(DAB2IP):c.575A>G (p.Lys192Arg)	DAB2IP (K68R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270786	NM_001395010.1(DAB2IP):c.592C>T (p.Arg198Trp)	DAB2IP (R198W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713727	NM_001395010.1(DAB2IP):c.595C>A (p.Arg199=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079910	NM_001395010.1(DAB2IP):c.608C>T (p.Pro203Leu)	DAB2IP (P203L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270780	NM_001395010.1(DAB2IP):c.628C>T (p.Arg210Cys)	DAB2IP (R182C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491023	NM_001395010.1(DAB2IP):c.731G>A (p.Arg244His)	DAB2IP (R216H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331418	NM_001395010.1(DAB2IP):c.734C>G (p.Thr245Ser)	DAB2IP (T121S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270782	NM_001395010.1(DAB2IP):c.798G>A (p.Pro266=)	DAB2IP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2551523	NM_001395010.1(DAB2IP):c.806G>A (p.Arg269His)	DAB2IP (R269H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518873	NM_001395010.1(DAB2IP):c.829C>T (p.Arg277Trp)	DAB2IP (R153W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726685	NM_001395010.1(DAB2IP):c.852G>A (p.Lys284=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270777	NM_001395010.1(DAB2IP):c.860G>A (p.Arg287His)	DAB2IP (R163H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257099	NM_001395010.1(DAB2IP):c.919G>A (p.Val307Met)	DAB2IP (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079911	NM_001395010.1(DAB2IP):c.926A>G (p.Lys309Arg)	DAB2IP (K185R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079912	NM_001395010.1(DAB2IP):c.961G>A (p.Gly321Ser)	DAB2IP (G197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361549	NM_001395010.1(DAB2IP):c.997C>T (p.Arg333Cys)	DAB2IP (R305C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774676	NM_001395010.1(DAB2IP):c.1002C>T (p.Tyr334=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079913	NM_001395010.1(DAB2IP):c.1079G>C (p.Cys360Ser)	DAB2IP (C332S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715480	NM_001395010.1(DAB2IP):c.1101C>T (p.Leu367=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479964	NM_001395010.1(DAB2IP):c.1168A>C (p.Lys390Gln)	DAB2IP (K362Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329151	NM_001395010.1(DAB2IP):c.1190T>C (p.Met397Thr)	DAB2IP (M273T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555777	NM_001395010.1(DAB2IP):c.1216G>A (p.Asp406Asn)	DAB2IP (D282N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405795	NM_001395010.1(DAB2IP):c.1218C>A (p.Asp406Glu)	DAB2IP (D282E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536283	NM_001395010.1(DAB2IP):c.1272G>T (p.Glu424Asp)	DAB2IP (E396D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714442	NM_001395010.1(DAB2IP):c.1379C>T (p.Ser460Leu)	DAB2IP, LOC124310636 (S432L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2362846	NM_001395010.1(DAB2IP):c.1393C>T (p.Pro465Ser)	DAB2IP, LOC124310636 (P341S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369172	NM_001395010.1(DAB2IP):c.1433C>T (p.Ala478Val)	DAB2IP, LOC124310636 (A450V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611056	NM_001395010.1(DAB2IP):c.1463T>G (p.Val488Gly)	DAB2IP (V460G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598962	NM_001395010.1(DAB2IP):c.1529C>T (p.Pro510Leu)	DAB2IP (P482L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408193	NM_001395010.1(DAB2IP):c.1544G>A (p.Arg515Gln)	DAB2IP (R487Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334649	NM_001395010.1(DAB2IP):c.1640C>T (p.Thr547Ile)	DAB2IP (T423I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521428	NM_001395010.1(DAB2IP):c.1667A>G (p.Lys556Arg)	DAB2IP (K528R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486535	NM_001395010.1(DAB2IP):c.1762A>C (p.Met588Leu)	DAB2IP (M464L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591307	NM_001395010.1(DAB2IP):c.1813G>T (p.Ala605Ser)	DAB2IP (A577S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079896	NM_001395010.1(DAB2IP):c.1882G>A (p.Val628Ile)	DAB2IP (V504I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369010	NM_001395010.1(DAB2IP):c.1907T>C (p.Val636Ala)	DAB2IP (V512A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399399	NM_001395010.1(DAB2IP):c.1975G>A (p.Gly659Arg)	DAB2IP (G631R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354602	NM_001395010.1(DAB2IP):c.2012C>T (p.Pro671Leu)	DAB2IP (P547L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270790	NM_001395010.1(DAB2IP):c.2147C>T (p.Ser716Phe)	DAB2IP (S592F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079897	NM_001395010.1(DAB2IP):c.2167C>T (p.Pro723Ser)	DAB2IP (P695S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270788	NM_001395010.1(DAB2IP):c.2174G>A (p.Arg725His)	DAB2IP (R601H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363048	NM_001395010.1(DAB2IP):c.2180C>T (p.Ser727Leu)	DAB2IP (S603L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079898	NM_001395010.1(DAB2IP):c.2232G>C (p.Lys744Asn)	DAB2IP (K744N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270784	NM_001395010.1(DAB2IP):c.2244G>A (p.Met748Ile)	DAB2IP (M720I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508536	NM_001395010.1(DAB2IP):c.2264G>A (p.Arg755His)	DAB2IP (R631H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595230	NM_001395010.1(DAB2IP):c.2291C>T (p.Pro764Leu)	DAB2IP (P764L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394282	NM_001395010.1(DAB2IP):c.2294C>T (p.Ala765Val)	DAB2IP (A641V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363769	NM_001395010.1(DAB2IP):c.2302G>A (p.Asp768Asn)	DAB2IP (D644N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292202	NM_001395010.1(DAB2IP):c.2319T>A (p.Asp773Glu)	DAB2IP (D649E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224908	NM_001395010.1(DAB2IP):c.2350G>A (p.Gly784Arg)	DAB2IP (G660R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270776	NM_001395010.1(DAB2IP):c.2362C>T (p.Arg788Trp)	DAB2IP (R664W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659480	NM_001395010.1(DAB2IP):c.2445C>T (p.Gly815=)	DAB2IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780824	NM_001395010.1(DAB2IP):c.2446G>A (p.Ala816Thr)	DAB2IP (A692T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2380408	NM_001395010.1(DAB2IP):c.2447C>T (p.Ala816Val)	DAB2IP (A816V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537875	NM_001395010.1(DAB2IP):c.2507C>T (p.Ala836Val)	DAB2IP (A712V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386782	NM_001395010.1(DAB2IP):c.2519C>T (p.Pro840Leu)	DAB2IP (P716L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079899	NM_001395010.1(DAB2IP):c.2651G>A (p.Arg884Gln)	DAB2IP (R856Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305543	NM_001395010.1(DAB2IP):c.2672G>A (p.Arg891Gln)	DAB2IP (R767Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545131	NM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu)	DAB2IP (P796L +2 more)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2269692	NM_001395010.1(DAB2IP):c.2794C>T (p.Arg932Cys)	DAB2IP (R904C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079900	NM_001395010.1(DAB2IP):c.2798G>A (p.Gly933Asp)	DAB2IP (G933D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270778	NM_001395010.1(DAB2IP):c.2812A>G (p.Asn938Asp)	DAB2IP (N910D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270787	NM_001395010.1(DAB2IP):c.2825C>T (p.Thr942Ile)	DAB2IP (T818I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079901	NM_001395010.1(DAB2IP):c.2848A>G (p.Ser950Gly)	DAB2IP (S950G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293441	NM_001395010.1(DAB2IP):c.2861C>T (p.Ala954Val)	DAB2IP (A830V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276349	NM_001395010.1(DAB2IP):c.2878T>C (p.Trp960Arg)	DAB2IP (W836R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283277	NM_001395010.1(DAB2IP):c.2880G>C (p.Trp960Cys)	DAB2IP (W960C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079902	NM_001395010.1(DAB2IP):c.2881G>A (p.Val961Met)	DAB2IP (V961M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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