163183[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 227083	NM_001039876.3(SYNE4):c.*5T>C	SYNE4	Single nucleotide variant (3 prime UTR variant)	SYNE4-related condition +2 more	GBenign/Likely benign
Select item 228292	NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del	SYNE4	Deletion	Rare genetic deafness	GLikely pathogenic
Select item 2966897	NM_001039876.3(SYNE4):c.1209A>C (p.Pro403=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810548	NM_001039876.3(SYNE4):c.1196A>G (p.Asn399Ser)	SYNE4 (N286S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353240	NM_001039876.3(SYNE4):c.1187G>A (p.Ser396Asn)	SYNE4 (S396N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503703	NM_001039876.3(SYNE4):c.1173del (p.Tyr392fs)	SYNE4 (Y392fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 504860	NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln)	SYNE4 (R386Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 500194	NM_001039876.3(SYNE4):c.1157G>C (p.Arg386Pro)	SYNE4 (R386P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878781	NM_001039876.3(SYNE4):c.1146C>T (p.Cys382=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842748	NM_001039876.3(SYNE4):c.1134A>T (p.Gly378=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683492	NM_001039876.3(SYNE4):c.1132G>A (p.Gly378Arg)	SYNE4 (G265R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013880	NM_001039876.3(SYNE4):c.1128G>A (p.Ala376=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227974	NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)	SYNE4 (A376V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 795150	NM_001039876.3(SYNE4):c.1125C>T (p.Pro375=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 235735	NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)	SYNE4 (V368M +1 more)	Single nucleotide variant (missense variant)	SYNE4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2788406	NM_001039876.3(SYNE4):c.1101G>T (p.Leu367=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854965	NM_001039876.3(SYNE4):c.1099C>T (p.Leu367=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363752	NM_001039876.3(SYNE4):c.1081TTCCTCCTC[1] (p.361FLL[1])	SYNE4	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2990713	NM_001039876.3(SYNE4):c.1089C>A (p.Leu363=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767940	NM_001039876.3(SYNE4):c.1080C>G (p.Leu360=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658064	NM_001039876.3(SYNE4):c.1078C>A (p.Leu360Ile)	SYNE4 (L247I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2748041	NM_001039876.3(SYNE4):c.1062G>A (p.Leu354=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972280	NM_001039876.3(SYNE4):c.1060C>T (p.Leu354=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104238	NM_001039876.3(SYNE4):c.1050C>T (p.Ser350=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172753	NM_001039876.3(SYNE4):c.1048T>C (p.Ser350Pro)	SYNE4 (S350P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1364313	NM_001039876.3(SYNE4):c.1039G>A (p.Asp347Asn)	SYNE4 (D234N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977904	NM_001039876.3(SYNE4):c.1038C>T (p.Pro346=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792592	NM_001039876.3(SYNE4):c.1038C>G (p.Pro346=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667331	NM_001039876.3(SYNE4):c.1032-2A>T	SYNE4	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2958746	NM_001039876.3(SYNE4):c.1032-14A>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746207	NM_001039876.3(SYNE4):c.1032-16G>T	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910843	NM_001039876.3(SYNE4):c.1031+6G>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 229282	NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser)	SYNE4 (N342S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 504814	NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=)	SYNE4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2862133	NM_001039876.3(SYNE4):c.1005G>A (p.Gln335=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325951	NM_001039876.3(SYNE4):c.990A>G (p.Ala330=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501099	NM_001039876.3(SYNE4):c.973-2A>T	SYNE4	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2896369	NM_001039876.3(SYNE4):c.973-4T>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990011	NM_001039876.3(SYNE4):c.973-9C>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752781	NM_001039876.3(SYNE4):c.973-14C>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628401	NM_001039876.3(SYNE4):c.973-18G>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659173	NM_001039876.3(SYNE4):c.973-20T>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191562	NM_001039876.3(SYNE4):c.973-271G>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233611	NM_001039876.3(SYNE4):c.972+263A>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195551	NM_001039876.3(SYNE4):c.972+143A>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286443	NM_001039876.3(SYNE4):c.972+114T>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233303	NM_001039876.3(SYNE4):c.972+97dup	SYNE4	Duplication (intron variant)	not provided	GBenign
Select item 2704566	NM_001039876.3(SYNE4):c.972+20G>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003399	NM_001039876.3(SYNE4):c.972+19A>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588371	NM_001039876.3(SYNE4):c.972+10T>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504861	NM_001039876.3(SYNE4):c.972+5G>A	SYNE4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3010424	NM_001039876.3(SYNE4):c.972+2T>A	SYNE4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2719747	NM_001039876.3(SYNE4):c.972+1G>A	SYNE4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2861575	NM_001039876.3(SYNE4):c.963G>T (p.Arg321=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504862	NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)	SYNE4 (R321Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2158667	NM_001039876.3(SYNE4):c.961C>T (p.Arg321Trp)	SYNE4 (R208W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184745	NM_001039876.3(SYNE4):c.954C>A (p.Ser318=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517527	NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr)	SYNE4 (H314Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2842755	NM_001039876.3(SYNE4):c.939T>G (p.Arg313=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202419	NM_001039876.3(SYNE4):c.937C>T (p.Arg313Cys)	SYNE4 (R200C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2238403	NM_001039876.3(SYNE4):c.929G>T (p.Arg310Leu)	SYNE4 (R197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2881865	NM_001039876.3(SYNE4):c.921C>T (p.His307=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682357	NM_001039876.3(SYNE4):c.916G>C (p.Gly306Arg)	SYNE4 (G193R +1 more)	Single nucleotide variant (missense variant)	SYNE4-related condition +1 more	GLikely benign
Select item 2755618	NM_001039876.3(SYNE4):c.915C>T (p.Leu305=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246092	NM_001039876.3(SYNE4):c.905A>C (p.Glu302Ala)	SYNE4 (E302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473013	NM_001039876.3(SYNE4):c.899T>C (p.Met300Thr)	SYNE4 (M187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2989159	NM_001039876.3(SYNE4):c.889C>T (p.Arg297Ter)	SYNE4 (R184* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 595711	NM_001039876.3(SYNE4):c.888C>T (p.Ser296=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2834704	NM_001039876.3(SYNE4):c.868-2A>G	SYNE4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2879913	NM_001039876.3(SYNE4):c.868-13G>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233516	NM_001039876.3(SYNE4):c.867+328_867+331del	SYNE4	Deletion (intron variant)	not provided	GBenign
Select item 1192996	NM_001039876.3(SYNE4):c.867+143A>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202464	NM_001039876.3(SYNE4):c.867+78C>G	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021162	NM_001039876.3(SYNE4):c.867+18T>C	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970784	NM_001039876.3(SYNE4):c.867+18del	SYNE4	Deletion (intron variant)	not provided	GLikely benign
Select item 2820132	NM_001039876.3(SYNE4):c.867+16C>A	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807383	NM_001039876.3(SYNE4):c.867+13C>T	SYNE4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871165	NM_001039876.3(SYNE4):c.861C>G (p.Gly287=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982109	NM_001039876.3(SYNE4):c.853G>T (p.Gly285Ter)	SYNE4 (G172* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2247858	NM_001039876.3(SYNE4):c.847G>A (p.Gly283Ser)	SYNE4 (G170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227091	NM_001039876.3(SYNE4):c.834G>C (p.Gln278His)	SYNE4 (Q278H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2899915	NM_001039876.3(SYNE4):c.832C>T (p.Gln278Ter)	SYNE4 (Q165* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2808646	NM_001039876.3(SYNE4):c.828_829del (p.Cys276fs)	SYNE4 (C163fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2279227	NM_001039876.3(SYNE4):c.820G>A (p.Glu274Lys)	SYNE4 (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227090	NM_001039876.3(SYNE4):c.819T>C (p.Cys273=)	SYNE4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2385081	NM_001039876.3(SYNE4):c.812T>C (p.Val271Ala)	SYNE4 (V158A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 227089	NM_001039876.3(SYNE4):c.805C>T (p.Leu269=)	SYNE4	Single nucleotide variant (synonymous variant)	SYNE4-related condition +2 more	GBenign/Likely benign
Select item 2728186	NM_001039876.3(SYNE4):c.800G>A (p.Arg267Gln)	SYNE4 (R154Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 227088	NM_001039876.3(SYNE4):c.799C>T (p.Arg267Trp)	SYNE4 (R267W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2309993	NM_001039876.3(SYNE4):c.796G>T (p.Ala266Ser)	SYNE4 (A266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517272	NM_001039876.3(SYNE4):c.789A>G (p.Gln263=)	SYNE4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2819866	NM_001039876.3(SYNE4):c.781T>C (p.Leu261=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800105	NM_001039876.3(SYNE4):c.777G>A (p.Gly259=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504863	NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)	SYNE4 (I255T +1 more)	Single nucleotide variant (missense variant)	SYNE4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2977352	NM_001039876.3(SYNE4):c.762C>T (p.Asp254=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826688	NM_001039876.3(SYNE4):c.759G>C (p.Gly253=)	SYNE4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514699	NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)	SYNE4	Single nucleotide variant (synonymous variant)	SYNE4-related condition +1 more	GConflicting classifications of pathogenicity

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