112609[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 155103	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59504	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 59522	GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 144628	GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3	CEP162, CYB5R4 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 3032145	NM_138409.4(MRAP2):c.-5C>T	MRAP2	Single nucleotide variant (5 prime UTR variant)	MRAP2-related disorder	GLikely benign
Select item 3060321	NM_138409.4(MRAP2):c.7G>A (p.Ala3Thr)	MRAP2 (A3T)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3349540	NM_138409.4(MRAP2):c.18A>C (p.Leu6Phe)	MRAP2 (L6F)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3348476	NM_138409.4(MRAP2):c.27C>T (p.Asn9=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3251146	NM_138409.4(MRAP2):c.28A>G (p.Arg10Gly)	MRAP2 (R10G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2887589	NM_138409.4(MRAP2):c.36C>A (p.Ser12=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3031258	NM_138409.4(MRAP2):c.42A>G (p.Gln14=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 1397756	NM_138409.4(MRAP2):c.44C>T (p.Ser15Leu)	MRAP2 (S15L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3203879	NM_138409.4(MRAP2):c.58G>C (p.Asp20His)	MRAP2 (D20H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2628917	NM_138409.4(MRAP2):c.64A>G (p.Thr22Ala)	MRAP2 (T22A)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3351384	NM_138409.4(MRAP2):c.69G>A (p.Trp23Ter)	MRAP2 (W23*)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 66029	NM_138409.4(MRAP2):c.70G>T (p.Glu24Ter)	MRAP2 (E24*)	Single nucleotide variant (5 prime UTR variant +1 more)	Body mass index quantitative trait locus 18	Grisk factor
Select item 3031367	NM_138409.4(MRAP2):c.78A>G (p.Glu26=)	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 2862344	NM_138409.4(MRAP2):c.81T>G (p.Tyr27Ter)	MRAP2 (Y27*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3353492	NM_138409.4(MRAP2):c.95C>T (p.Pro32Leu)	MRAP2 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 2295739	NM_138409.4(MRAP2):c.109G>A (p.Gly37Arg)	MRAP2 (G37R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3348292	NM_138409.4(MRAP2):c.116del (p.Lys39fs)	MRAP2 (K39fs)	Deletion (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3347917	NM_138409.4(MRAP2):c.118G>T (p.Ala40Ser)	MRAP2 (A40S)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3058708	NM_138409.4(MRAP2):c.122A>C (p.His41Pro)	MRAP2 (H41P)	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 2629251	NM_138409.4(MRAP2):c.127+5G>T	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 1570255	NM_138409.4(MRAP2):c.127+7T>G	MRAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052042	NM_138409.4(MRAP2):c.127+10A>G	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GLikely benign
Select item 3354756	NM_138409.4(MRAP2):c.128-8T>C	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 3356250	NM_138409.4(MRAP2):c.128-7C>G	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GLikely benign
Select item 3051015	NM_138409.4(MRAP2):c.128-5T>G	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GLikely benign
Select item 3035282	NM_138409.4(MRAP2):c.128-3C>A	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GUncertain significance
Select item 3352186	NM_138409.4(MRAP2):c.128A>T (p.Tyr43Phe)	MRAP2 (Y43F)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 3349856	NM_138409.4(MRAP2):c.140T>C (p.Ile47Thr)	MRAP2 (I47T)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 3349563	NM_138409.4(MRAP2):c.141T>C (p.Ile47=)	MRAP2	Single nucleotide variant (synonymous variant +2 more)	MRAP2-related disorder	GLikely benign
Select item 3045456	NM_138409.4(MRAP2):c.152T>A (p.Val51Asp)	MRAP2 (V51D)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 3345164	NM_138409.4(MRAP2):c.174T>G (p.Ile58Met)	MRAP2 (I58M)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 2733327	NM_138409.4(MRAP2):c.179del (p.Met60fs)	MRAP2 (M60fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 748658	NM_138409.4(MRAP2):c.194C>T (p.Thr65Ile)	MRAP2 (T65I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3349272	NM_138409.4(MRAP2):c.209C>G (p.Thr70Arg)	MRAP2 (T70R)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 1050198	NM_138409.4(MRAP2):c.209C>T (p.Thr70Ile)	MRAP2 (T70I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3355136	NM_138409.4(MRAP2):c.213A>C (p.Gly71=)	MRAP2	Single nucleotide variant (synonymous variant +2 more)	MRAP2-related disorder	GLikely benign
Select item 3355663	NM_138409.4(MRAP2):c.218C>G (p.Pro73Arg)	MRAP2 (P73R)	Single nucleotide variant (missense variant +2 more)	MRAP2-related disorder	GUncertain significance
Select item 2338003	NM_138409.4(MRAP2):c.222C>G (p.His74Gln)	MRAP2 (H74Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3357928	NM_138409.4(MRAP2):c.228-1877T>C	MRAP2	Single nucleotide variant (5 prime UTR variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3357585	NM_138409.4(MRAP2):c.228-1866C>T	MRAP2	Single nucleotide variant (synonymous variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3347778	NM_138409.4(MRAP2):c.228-1845C>T	MRAP2	Single nucleotide variant (synonymous variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3058853	NM_138409.4(MRAP2):c.228-1844G>A	MRAP2 (G10R)	Single nucleotide variant (missense variant +1 more)	MRAP2-related disorder	GBenign
Select item 3349285	NM_138409.4(MRAP2):c.228-1839T>G	MRAP2	Single nucleotide variant (synonymous variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3357756	NM_138409.4(MRAP2):c.228-1835C>T	MRAP2 (R13*)	Single nucleotide variant (nonsense +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3355989	NM_138409.4(MRAP2):c.228-1834G>A	MRAP2 (R13Q)	Single nucleotide variant (missense variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3344552	NM_138409.4(MRAP2):c.228-1815C>T	MRAP2	Single nucleotide variant (synonymous variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3357346	NM_138409.4(MRAP2):c.228-1812G>A	MRAP2	Single nucleotide variant (synonymous variant +1 more)	MRAP2-related disorder	GLikely benign
Select item 3350574	NM_138409.4(MRAP2):c.228-1810C>T	MRAP2 (S21F)	Single nucleotide variant (missense variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 3043449	NM_138409.4(MRAP2):c.228-1809del	MRAP2	Deletion (intron variant +1 more)	MRAP2-related disorder	GUncertain significance
Select item 1601123	NM_138409.4(MRAP2):c.228-19A>C	MRAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991393	NM_138409.4(MRAP2):c.228-7del	MRAP2	Deletion (intron variant)	not provided	GBenign
Select item 3349792	NM_138409.4(MRAP2):c.228-7T>A	MRAP2	Single nucleotide variant (intron variant)	MRAP2-related disorder	GLikely benign
Select item 1479292	NM_138409.4(MRAP2):c.228-2A>G	MRAP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2994463	NM_138409.4(MRAP2):c.273G>A (p.Val91=)	MRAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3354023	NM_138409.4(MRAP2):c.288A>T (p.Arg96Ser)	MRAP2 (R10S +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 2456738	NM_138409.4(MRAP2):c.289C>T (p.Pro97Ser)	MRAP2 (P11S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319530	NM_138409.4(MRAP2):c.295G>A (p.Glu99Lys)	MRAP2 (E13K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295783	NM_138409.4(MRAP2):c.316C>T (p.Arg106Cys)	MRAP2 (R51C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043691	NM_138409.4(MRAP2):c.317G>A (p.Arg106His)	MRAP2 (R106H +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3344983	NM_138409.4(MRAP2):c.324C>T (p.Gly108=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 3345715	NM_138409.4(MRAP2):c.335C>T (p.Ser112Phe)	MRAP2 (S112F +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3345049	NM_138409.4(MRAP2):c.345_346del (p.Phe116fs)	MRAP2 (F116fs +2 more)	Microsatellite (frameshift variant)	MRAP2-related disorder	GUncertain significance
Select item 3352543	NM_138409.4(MRAP2):c.343C>G (p.Leu115Val)	MRAP2 (L115V +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3353893	NM_138409.4(MRAP2):c.346_349del (p.Phe116fs)	MRAP2 (F116fs +2 more)	Deletion (frameshift variant)	MRAP2-related disorder	GUncertain significance
Select item 2338296	NM_138409.4(MRAP2):c.347T>C (p.Phe116Ser)	MRAP2 (F116S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348763	NM_138409.4(MRAP2):c.349C>T (p.His117Tyr)	MRAP2 (H117Y +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 2754989	NM_138409.4(MRAP2):c.356A>C (p.Tyr119Ser)	MRAP2 (Y119S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354120	NM_138409.4(MRAP2):c.357C>T (p.Tyr119=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 3350570	NM_138409.4(MRAP2):c.369G>C (p.Val123=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 3350112	NM_138409.4(MRAP2):c.369G>A (p.Val123=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 2629831	NM_138409.4(MRAP2):c.373C>T (p.Arg125Cys)	MRAP2 (R125C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710687	NM_138409.4(MRAP2):c.374G>A (p.Arg125His)	MRAP2 (R39H +2 more)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 18 +1 more	GLikely benign
Select item 1494604	NM_138409.4(MRAP2):c.409G>A (p.Ala137Thr)	MRAP2 (A137T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354750	NM_138409.4(MRAP2):c.413T>C (p.Leu138Pro)	MRAP2 (L138P +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3358608	NM_138409.4(MRAP2):c.423C>T (p.Asp141=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 3350477	NM_138409.4(MRAP2):c.424G>A (p.Val142Ile)	MRAP2 (V142I +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3358346	NM_138409.4(MRAP2):c.436G>A (p.Glu146Lys)	MRAP2 (E146K +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3352531	NM_138409.4(MRAP2):c.453T>G (p.Ser151Arg)	MRAP2 (S151R +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 1544320	NM_138409.4(MRAP2):c.477C>T (p.Asn159=)	MRAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3357490	NM_138409.4(MRAP2):c.496A>G (p.Ile166Val)	MRAP2 (I111V +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 2910203	NM_138409.4(MRAP2):c.499C>G (p.Pro167Ala)	MRAP2 (P112A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629315	NM_138409.4(MRAP2):c.521A>G (p.Gln174Arg)	MRAP2 (Q119R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029502	NM_138409.4(MRAP2):c.559C>G (p.Pro187Ala)	MRAP2 (P101A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349938	NM_138409.4(MRAP2):c.560C>G (p.Pro187Arg)	MRAP2 (P101R +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 2636495	NM_138409.4(MRAP2):c.565A>G (p.Ile189Val)	MRAP2 (I103V +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3057030	NM_138409.4(MRAP2):c.585A>T (p.Pro195=)	MRAP2	Single nucleotide variant (synonymous variant)	MRAP2-related disorder	GLikely benign
Select item 1599701	NM_138409.4(MRAP2):c.603C>T (p.His201=)	MRAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3351381	NM_138409.4(MRAP2):c.607G>T (p.Asp203Tyr)	MRAP2 (D117Y +2 more)	Single nucleotide variant (missense variant)	MRAP2-related disorder	GUncertain significance
Select item 3142615	NM_014895.4(CEP162):c.4160G>T (p.Gly1387Val)	CEP162, MRAP2 (G1311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142614	NM_014895.4(CEP162):c.4153C>T (p.Arg1385Trp)	CEP162, MRAP2 (R1309W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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