ClinVar for MedGen (Select 339994) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338648	NM_001372044.2(SHANK3):c.2301-2A>T	SHANK3	Single nucleotide variant (splice acceptor variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3258085	NM_001372044.2(SHANK3):c.5170_5171insGCTTA (p.Pro1724fs)	SHANK3 (P1724fs)	Insertion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3258080	NM_001372044.2(SHANK3):c.1400del (p.Ser467fs)	SHANK3 (S467fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3255056	NM_001372044.2(SHANK3):c.504del (p.Lys168fs)	SHANK3 (K168fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3235819	NM_001372044.2(SHANK3):c.3836del (p.Gln1279fs)	SHANK3 (Q1279fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3069185	NM_001372044.2(SHANK3):c.4910C>A (p.Ser1637Ter)	SHANK3 (S1562* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome +1 more	GPathogenic
Select item 3064112	NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)	SHANK3 (H1064fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3062347	GRCh38/hg38 22q11.21(chr22:19334035-19430073)	HIRA	Copy number gain	Phelan-McDermid syndrome	GUncertain significance
Select item 3062287	NM_001372044.2:c.288+1G>A	SHANK3	Single nucleotide variant	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3062260	NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)	SHANK3 (E1096fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3062044	NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)	SHANK3 (V1568fs)	Microsatellite (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3024516	NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)	SHANK3 (E1588* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3024287	NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)	SHANK3 (A1423fs)	Duplication (frameshift variant)	Schizophrenia 15 +1 more	GPathogenic
Select item 2689972	NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)	SHANK3 (E1276A +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2689971	NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)	SHANK3 (V263M +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2689970	NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)	SHANK3 (P668R +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2689969	NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)	SHANK3 (V123I +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2671639	NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)	SHANK3	Single nucleotide variant (synonymous variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2663911	NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)	SHANK3 (E1391* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 2626939	NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)	SHANK3 (H1693fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 2585315	NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)	SHANK3 (R1539fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2582717	NM_001372044.2(SHANK3):c.4362_4363del (p.Ser1455fs)	SHANK3 (S1455fs)	Microsatellite (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2572646	NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)	SHANK3 (D972fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 2570692	NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)	SHANK3 (E1130fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 2499587	NM_001372044.2(SHANK3):c.4341del (p.Thr1448fs)	SHANK3 (T1448fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 2444497	NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)	SHANK3 (Q112P +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GLikely benign
Select item 2442348	NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)	SHANK3 (R1115* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 2442069	NM_001372044.2(SHANK3):c.1961+1G>A	LOC126863188, SHANK3	Single nucleotide variant (splice donor variant)	Phelan-McDermid syndrome	GPathogenic
Select item 2442068	NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)	SHANK3 (A186T +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2441857	NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)	SHANK3 (P1148fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 2435924	NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)	SHANK3 (R192H +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2435923	NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)	SHANK3 (K117R +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2435922	NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)	SHANK3 (R133H +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2433352	NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)	SHANK3 (M1317fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 2431481	NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)	SHANK3 (G52E)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 2431444	NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)	SHANK3 (G1723fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 2430063	NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)	SHANK3 (Y1636*)	Duplication (nonsense +1 more)	Phelan-McDermid syndrome	GPathogenic
Select item 1992349	NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)	SHANK3 (R357* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1806046	NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)	SHANK3 (H238R +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1803732	NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)	SHANK3 (S1560W +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1803724	NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)	COL4A5 (K330R)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1803071	NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)	SHANK3 (Y1561* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 1802610	NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)	SHANK3 (D1212fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1802605	NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)	SHANK3 (F1168fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1802552	NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)	SHANK3 (Q1318fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1799563	NM_001372044.2(SHANK3):c.2410_2413del (p.Asp804fs)	SHANK3 (D804fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1710228	NM_001372044.2(SHANK3):c.3251del (p.Phe1084fs)	SHANK3 (F1084fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1710045	NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)	SHANK3 (G250V +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1710029	NM_001372044.2(SHANK3):c.2300+4_2300+12del	SHANK3	Deletion (intron variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1709928	NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)	SHANK3 (S1155C +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1709469	NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)	SHANK3 (Y957fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1709431	NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)	SHANK3 (E991fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1709401	NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)	SHANK3 (R1255Q +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1709377	NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)	SHANK3 (L1418F +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1709033	NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)	SHANK3 (Q1502R +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1709031	NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)	SHANK3 (T1063fs)	Insertion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1709005	NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)	SHANK3 (P1148fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1708213	NM_001372044.2(SHANK3):c.2871T>A (p.Tyr957Ter)	SHANK3 (Y882* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703550	GRCh37/hg19 22q13.33(chr22:51121452-51197838)	ACR, SHANK3	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1696659	NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu)	(R300L +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1684578	NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs)	SHANK3 (E1130fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1683570	NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys)	SHANK3 (R256C)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1683569	NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs)	SHANK3 (Q1318fs)	Deletion (frameshift variant)	Schizophrenia 15 +1 more	GPathogenic
Select item 1679589	NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val)	SHANK3 (A394V)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1341704	NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=)	SHANK3	Single nucleotide variant (synonymous variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1334393	NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)	SHANK3 (A1289fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 1333767	NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu)	SHANK3 (P1630L)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1333766	NM_001372044.2(SHANK3):c.2324+1del	SHANK3	Deletion (splice donor variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1333765	NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser)	SHANK3 (G438S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332951	NM_001372044.2(SHANK3):c.1529+46G>A	SHANK3	Single nucleotide variant (intron variant)	Phelan-McDermid syndrome	GBenign
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1325067	NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs)	SHANK3 (E1425fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1323593	NM_001372044.2(SHANK3):c.1336C>T (p.Gln446Ter)	SHANK3 (Q446*)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 1290001	NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=)	SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1285400	NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys)	SHANK3 (N355K)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1275575	NM_001372044.2(SHANK3):c.1113-8C>T	SHANK3	Single nucleotide variant (intron variant)	Phelan-McDermid syndrome +2 more	GBenign/Likely benign
Select item 1213795	NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu)	SHANK3 (P1005L)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1177294	NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter)	SHANK3 (Q1578*)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1029038	NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu)	SHANK3 (V107L)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 1029037	NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter)	SHANK3 (K192*)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 1029036	NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr)	SHANK3 (A139T)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GUncertain significance
Select item 997006	NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro)	LOC126863188, SHANK3 (R624P)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 996092	NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp)	SHANK3 (S1686W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 995856	NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)	SHANK3 (R883P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988760	NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)	SHANK3 (L1105fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome +1 more	GLikely pathogenic
Select item 988742	NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)	SHANK3 (E1371del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 978857	NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)	SHANK3 (V1432fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome +2 more	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic

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