23426[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 310265	NM_001366722.1(GRIP1):c.*1559dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310266	NM_001366722.1(GRIP1):c.1548_1551dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310267	NM_001366722.1(GRIP1):c.1524_1527del	GRIP1	Deletion (3 prime UTR variant)	Fraser syndrome 1	GLikely benign
Select item 881608	NM_001366722.1(GRIP1):c.*1511G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310268	NM_001366722.1(GRIP1):c.1495_1497dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310269	NM_001366722.1(GRIP1):c.1422_1426del	GRIP1	Deletion (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310270	NM_001366722.1(GRIP1):c.1388_1390dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310271	NM_001366722.1(GRIP1):c.*1328G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310272	NM_001366722.1(GRIP1):c.*1314G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GLikely benign
Select item 310273	NM_001366722.1(GRIP1):c.1299_1301dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GLikely benign
Select item 310274	NM_001366722.1(GRIP1):c.*1287A>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 3029431	NM_001366722.1(GRIP1):c.1260_1261dup	GRIP1	Duplication (3 prime UTR variant)	GRIP1-related disorder	GLikely benign
Select item 310276	NM_001366722.1(GRIP1):c.*1262T>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 310275	NM_001366722.1(GRIP1):c.*1261dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GConflicting classifications of pathogenicity
Select item 310277	NM_001366722.1(GRIP1):c.*1261del	GRIP1	Deletion (3 prime UTR variant)	Fraser syndrome 1	GBenign
Select item 882766	NM_001366722.1(GRIP1):c.*1216G>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 882767	NM_001366722.1(GRIP1):c.*1149A>G	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 882768	NM_001366722.1(GRIP1):c.*1019C>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310278	NM_001366722.1(GRIP1):c.*930T>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310279	NM_001366722.1(GRIP1):c.*915T>C	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 883555	NM_001366722.1(GRIP1):c.*832G>C	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310280	NM_001366722.1(GRIP1):c.*821T>G	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310281	NM_001366722.1(GRIP1):c.*752TAT[3]	GRIP1	Microsatellite (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310282	NM_001366722.1(GRIP1):c.753_757del	GRIP1	Deletion (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310283	NM_001366722.1(GRIP1):c.735_738dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310284	NM_001366722.1(GRIP1):c.723_725dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 310285	NM_001366722.1(GRIP1):c.*716T>C	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310286	NM_001366722.1(GRIP1):c.695_697dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GLikely benign
Select item 310287	NM_001366722.1(GRIP1):c.*679dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 883556	NM_001366722.1(GRIP1):c.*667C>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310288	NM_001366722.1(GRIP1):c.655_657dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GLikely benign
Select item 310289	NM_001366722.1(GRIP1):c.647_650dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GLikely benign
Select item 883557	NM_001366722.1(GRIP1):c.*617G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310290	NM_001366722.1(GRIP1):c.*616T>C	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GBenign
Select item 881188	NM_001366722.1(GRIP1):c.*611T>C	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310291	NM_001366722.1(GRIP1):c.*499A>G	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GLikely benign
Select item 310292	NM_001366722.1(GRIP1):c.*428C>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GBenign
Select item 310293	NM_001366722.1(GRIP1):c.*417G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310294	NM_001366722.1(GRIP1):c.*235G>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310295	NM_001366722.1(GRIP1):c.*234G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GLikely benign
Select item 881189	NM_001366722.1(GRIP1):c.*228C>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310296	NM_001366722.1(GRIP1):c.*138C>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 881650	NM_001366722.1(GRIP1):c.*99G>A	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 881651	NM_001366722.1(GRIP1):c.*93A>G	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 310297	NM_001366722.1(GRIP1):c.85_87dup	GRIP1	Duplication (3 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 881652	NM_001366722.1(GRIP1):c.*4C>T	GRIP1	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 3	GUncertain significance
Select item 2800194	NM_001366722.1(GRIP1):c.3369A>G (p.Glu1123=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707898	NM_001366722.1(GRIP1):c.3369A>T (p.Glu1123Asp)	GRIP1 (E1071D +4 more)	Single nucleotide variant (missense variant)	GRIP1-related disorder +1 more	GLikely benign
Select item 2726625	NM_001366722.1(GRIP1):c.3366A>G (p.Arg1122=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976375	NM_001366722.1(GRIP1):c.3345C>T (p.His1115=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610447	NM_001366722.1(GRIP1):c.3338C>A (p.Pro1113His)	GRIP1 (P1061H +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841374	NM_001366722.1(GRIP1):c.3336G>A (p.Gln1112=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 881653	NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg)	GRIP1 (Q1044R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881654	NM_001366722.1(GRIP1):c.3304T>A (p.Trp1102Arg)	GRIP1 (W1075R +4 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 2987391	NM_001366722.1(GRIP1):c.3303T>C (p.Asp1101=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876926	NM_001366722.1(GRIP1):c.3297A>C (p.Pro1099=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714441	NM_001366722.1(GRIP1):c.3294A>G (p.Leu1098=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781314	NM_001366722.1(GRIP1):c.3285A>G (p.Gln1095=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784279	NM_001366722.1(GRIP1):c.3258A>C (p.Pro1086=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018113	NM_001366722.1(GRIP1):c.3255C>A (p.Asn1085Lys)	GRIP1 (N1018K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823535	NM_001366722.1(GRIP1):c.3249T>C (p.Ser1083=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752713	NM_001366722.1(GRIP1):c.3246T>A (p.Ile1082=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746435	NM_001366722.1(GRIP1):c.3237C>T (p.Asp1079=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800901	NM_001366722.1(GRIP1):c.3231G>A (p.Lys1077=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882027	NM_001366722.1(GRIP1):c.3225G>A (p.Gly1075=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 881655	NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg)	GRIP1 (G1049R +4 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +1 more	GUncertain significance
Select item 881656	NM_001366722.1(GRIP1):c.3222C>T (p.Ser1074=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2550606	NM_001366722.1(GRIP1):c.3215C>G (p.Ala1072Gly)	GRIP1 (A1030G +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2792484	NM_001366722.1(GRIP1):c.3210C>T (p.Leu1070=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695877	NM_001366722.1(GRIP1):c.3207C>A (p.Pro1069=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289625	NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881657	NM_001366722.1(GRIP1):c.3199G>C (p.Val1067Leu)	GRIP1 (V1000L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 289294	NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser)	GRIP1 (T1007S +4 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +1 more	GUncertain significance
Select item 2909674	NM_001366722.1(GRIP1):c.3168T>C (p.His1056=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103817	NM_001366722.1(GRIP1):c.3160-4T>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871920	NM_001366722.1(GRIP1):c.3160-8C>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876362	NM_001366722.1(GRIP1):c.3160-9A>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782570	NM_001366722.1(GRIP1):c.3159+13G>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873287	NM_001366722.1(GRIP1):c.3159+11A>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725123	NM_001366722.1(GRIP1):c.3147C>T (p.Asp1049=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867634	NM_001366722.1(GRIP1):c.3144T>C (p.Tyr1048=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880597	NM_001366722.1(GRIP1):c.3123T>C (p.Asp1041=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871013	NM_001366722.1(GRIP1):c.3102T>C (p.Ile1034=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070450	NM_001366722.1(GRIP1):c.3099T>A (p.Asn1033Lys)	GRIP1 (N981K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839834	NM_001366722.1(GRIP1):c.3073C>T (p.Leu1025=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974985	NM_001366722.1(GRIP1):c.3069C>T (p.Gly1023=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310298	NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3016036	NM_001366722.1(GRIP1):c.3045C>T (p.Asp1015=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116254	NM_001366722.1(GRIP1):c.3028G>A (p.Asp1010Asn)	GRIP1 (D943N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693290	NM_001366722.1(GRIP1):c.3027G>A (p.Lys1009=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792237	NM_001366722.1(GRIP1):c.3013-6C>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784637	NM_001366722.1(GRIP1):c.3013-15A>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881537	NM_001366722.1(GRIP1):c.3013-17C>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868372	NM_001366722.1(GRIP1):c.3013-18C>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703970	NM_001366722.1(GRIP1):c.3013-19T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877499	NM_001366722.1(GRIP1):c.3012+19C>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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