"GeneDx"[submitter] AND "GYG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58554	GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3	AKAP17A, ARSD +56 more	Copy number gain	See cases	GPathogenic
Select item 146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	AKAP17A, ARSD +87 more	Copy number loss	See cases	GPathogenic
Select item 59205	GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0	ANOS1, ARSD +81 more	Copy number loss	See cases	GPathogenic
Select item 57646	GRCh38/hg38 Xp22.33(chrX:2782275-2904175)x0	ARSD, GYG2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 145721	GRCh38/hg38 Xp22.33(chrX:2790986-2884477)x2	GYG2, LOC126863189 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1294374	NC_000023.11:g.2828794G>C	GYG2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1227175	NC_000023.11:g.2828821G>A	GYG2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 668549	NM_001079855.2(GYG2):c.-129+10del	GYG2	Deletion (intron variant)	not provided	GLikely benign
Select item 388413	NM_001079855.2(GYG2):c.-129+9G>C	GYG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508844	NM_001079855.2(GYG2):c.-129+10G>C	GYG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 677261	NM_001079855.2(GYG2):c.-129+14T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667519	NM_001079855.2(GYG2):c.-129+16_-129+17insC	GYG2	Insertion (intron variant)	not provided	GLikely benign
Select item 1220908	NM_001079855.2(GYG2):c.-128-51T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318047	NM_001079855.2(GYG2):c.-128-34G>A	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682527	NM_001079855.2(GYG2):c.-128-18C>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318140	NM_001079855.2(GYG2):c.-128-9C>A	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516935	NM_001079855.2(GYG2):c.-49C>T	GYG2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383904	NM_001079855.2(GYG2):c.-23C>G	GYG2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379979	NM_001079855.2(GYG2):c.7+17G>C	GYG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294375	NM_001079855.2(GYG2):c.7+56C>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684112	NM_001079855.2(GYG2):c.7+185G>A	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234757	NM_001079855.2(GYG2):c.8-278T>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379981	NM_001079855.2(GYG2):c.8-204C>T	GYG2 (H7Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1317722	NM_001079855.2(GYG2):c.8-181C>G	GYG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317898	NM_001079855.2(GYG2):c.8-146C>A	GYG2 (A26D)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 509549	NM_001079855.2(GYG2):c.8-109C>T	GYG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 391216	NM_001079855.2(GYG2):c.31C>T (p.Leu11=)	GYG2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 724621	NM_001079855.2(GYG2):c.40A>C (p.Asn14His)	GYG2 (N45H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1315732	NM_001079855.2(GYG2):c.61G>A (p.Ala21Thr)	GYG2 (A21T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 381850	NM_001079855.2(GYG2):c.149+17C>T	GYG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1296399	NM_001079855.2(GYG2):c.149+63C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317881	NM_001079855.2(GYG2):c.149+146C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294376	NM_001079855.2(GYG2):c.324+80G>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316745	NM_001079855.2(GYG2):c.324+192C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684114	NM_001079855.2(GYG2):c.324+203T>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684115	NM_001079855.2(GYG2):c.325-262T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684117	NM_001079855.2(GYG2):c.325-242C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673078	NM_001079855.2(GYG2):c.325-214A>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385020	NM_001079855.2(GYG2):c.345G>A (p.Glu115=)	GYG2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 430115	NM_001079855.2(GYG2):c.355A>G (p.Arg119Gly)	GYG2 (R150G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 680435	NM_001079855.2(GYG2):c.487+17C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317833	NM_001079855.2(GYG2):c.487+200T>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317964	NM_001079855.2(GYG2):c.488-259C>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182627	NM_001079855.2(GYG2):c.488-61A>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380092	NM_001079855.2(GYG2):c.558G>A (p.Pro186=)	GYG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 679662	NM_001079855.2(GYG2):c.584C>T (p.Thr195Met)	GYG2 (T195M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1259145	NM_001079855.2(GYG2):c.614+35T>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222903	NM_001079855.2(GYG2):c.614+96TCTA[3]	GYG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1177826	NM_001079855.2(GYG2):c.614+107_614+109dup	GYG2	Duplication (intron variant)	not provided	GBenign
Select item 1318366	NM_001079855.2(GYG2):c.614+113_614+114insTATCTATGT	GYG2	Insertion (intron variant)	not provided	GLikely benign
Select item 1318258	NM_001079855.2(GYG2):c.614+114ATCT[4]	GYG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1253367	NM_001079855.2(GYG2):c.614+113_614+114insT	GYG2	Insertion (intron variant)	not provided	GBenign
Select item 1293207	NM_001079855.2(GYG2):c.614+119_614+120insGTAT	GYG2	Insertion (intron variant)	not provided	GBenign
Select item 1318276	NM_001079855.2(GYG2):c.614+117del	GYG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1292513	NM_001079855.2(GYG2):c.614+128_614+135del	GYG2	Deletion (intron variant)	not provided	GBenign
Select item 1250438	NM_001079855.2(GYG2):c.614+128_614+131del	GYG2	Deletion (intron variant)	not provided	GBenign
Select item 1317727	NM_001079855.2(GYG2):c.614+129TATC[12]	GYG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1294377	NM_001079855.2(GYG2):c.614+128G>C	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318275	NM_001079855.2(GYG2):c.614+133_614+134insGTCT	GYG2	Insertion (intron variant)	not provided	GLikely benign
Select item 1317720	NM_001079855.2(GYG2):c.614+153del	GYG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1317183	NM_001079855.2(GYG2):c.614+158_614+160dup	GYG2	Duplication (intron variant)	not provided	GLikely benign
Select item 1316018	NM_001079855.2(GYG2):c.614+157del	GYG2	Deletion (intron variant)	not provided	GLikely benign
Select item 1231852	NM_001079855.2(GYG2):c.614+164_614+165insT	GYG2	Insertion (intron variant)	not provided	GBenign
Select item 1282986	NM_001079855.2(GYG2):c.614+168del	GYG2	Deletion (intron variant)	not provided	GBenign
Select item 1178499	NM_001079855.2(GYG2):c.614+169_614+171dup	GYG2	Duplication (intron variant)	not provided	GBenign
Select item 1316702	NM_001079855.2(GYG2):c.614+176_614+182del	GYG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1290666	NM_001079855.2(GYG2):c.614+172del	GYG2	Deletion (intron variant)	not provided	GBenign
Select item 1293934	NM_001079855.2(GYG2):c.614+182_614+183insATCTATCTATC	GYG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1240511	NM_001079855.2(GYG2):c.614+176ATCT[4]	GYG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221032	NM_001079855.2(GYG2):c.614+175_614+176insT	GYG2	Insertion (intron variant)	not provided	GBenign
Select item 669492	NM_001079855.2(GYG2):c.614+325G>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318092	NM_001079855.2(GYG2):c.615-324_615-322del	GYG2	Deletion (intron variant)	not provided	GLikely benign
Select item 684124	NM_001079855.2(GYG2):c.615-324A>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318338	NM_001079855.2(GYG2):c.615-321G>C	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242669	NM_001079855.2(GYG2):c.615-38C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506329	NM_001079855.2(GYG2):c.615-8C>T	GYG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379982	NM_001079855.2(GYG2):c.716C>T (p.Ala239Val)	GYG2 (A270V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 391207	NM_001079855.2(GYG2):c.799G>A (p.Val267Ile)	GYG2 (V298I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 387462	NM_001079855.2(GYG2):c.819C>T (p.Arg273=)	GYG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426232	NM_001079855.2(GYG2):c.820G>A (p.Ala274Thr)	GYG2 (A305T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1318326	NM_001079855.2(GYG2):c.837+106T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684126	NM_001079855.2(GYG2):c.837+216G>A	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264164	NM_001079855.2(GYG2):c.837+239T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684129	NM_001079855.2(GYG2):c.837+327C>G	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684131	NM_001079855.2(GYG2):c.838-233T>C	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229191	NM_001079855.2(GYG2):c.838-229G>A	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316006	NM_001079855.2(GYG2):c.838-203C>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317876	NM_001079855.2(GYG2):c.838-36A>G	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379983	NM_001079855.2(GYG2):c.845A>G (p.His282Arg)	GYG2 (H313R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1317231	NM_001079855.2(GYG2):c.869C>T (p.Ala290Val)	GYG2 (A135V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 381209	NM_001079855.2(GYG2):c.870G>A (p.Ala290=)	GYG2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1318386	NM_001079855.2(GYG2):c.929C>T (p.Pro310Leu)	GYG2 (P155L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 382614	NM_001079855.2(GYG2):c.1024C>T (p.Arg342Cys)	GYG2 (R373C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1293240	NM_001079855.2(GYG2):c.1038+112C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316752	NM_001079855.2(GYG2):c.1038+172C>T	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672601	NM_001079855.2(GYG2):c.1039-279_1039-257del	GYG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1316801	NM_001079855.2(GYG2):c.1039-181G>A	GYG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239639	NM_001079855.2(GYG2):c.1039-124_1039-123del	GYG2	Deletion (intron variant)	not provided	GBenign
Select item 514215	NM_001079855.2(GYG2):c.1039-15C>T	GYG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383057	NM_001079855.2(GYG2):c.1099C>A (p.Pro367Thr)	GYG2 (P398T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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