ClinVar for Gene (Select 85358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255056	NM_001372044.2(SHANK3):c.504del (p.Lys168fs)	SHANK3 (K168fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3253006	NM_001372044.2(SHANK3):c.3499A>G (p.Thr1167Ala)	SHANK3 (T1167A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252275	NM_001372044.2(SHANK3):c.3737T>A (p.Val1246Glu)	SHANK3 (V1246E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251528	NM_001372044.2(SHANK3):c.3607C>A (p.Pro1203Thr)	SHANK3 (P1203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251072	NM_001372044.2(SHANK3):c.3350C>A (p.Ala1117Glu)	SHANK3 (A1042E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250871	NM_001372044.2(SHANK3):c.70G>T (p.Ala24Ser)	SHANK3 (A24S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250801	NM_001372044.2(SHANK3):c.1797C>T (p.Cys599=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242288	GRCh37/hg19 22q13.33(chr22:51160350-51304566)x2	ACR, RABL2B +1 more	Copy number loss	not provided	GPathogenic
Select item 3239544	NM_001372044.2(SHANK3):c.3902G>A (p.Gly1301Glu)	SHANK3 (G1226E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235819	NM_001372044.2(SHANK3):c.3836del (p.Gln1279fs)	SHANK3 (Q1279fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3234808	NM_001372044.2(SHANK3):c.3769C>T (p.Arg1257Trp)	SHANK3 (R1182W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234669	NM_001372044.2(SHANK3):c.5394C>A (p.Arg1798=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234268	NM_001372044.2(SHANK3):c.1512C>T (p.Ala504=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233692	NM_001372044.2(SHANK3):c.2790C>T (p.Phe930=)	SHANK3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233495	NM_001372044.2:c.255C>A	SHANK3	Single nucleotide variant	not specified	GLikely benign
Select item 3161554	NM_001372044.2(SHANK3):c.5323C>T (p.Pro1775Ser)	SHANK3 (P1775S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161553	NM_001372044.2(SHANK3):c.5224C>T (p.Leu1742Phe)	SHANK3 (L1667F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161552	NM_001372044.2(SHANK3):c.5006C>T (p.Ala1669Val)	SHANK3 (A1594V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161551	NM_001372044.2(SHANK3):c.4754C>T (p.Ser1585Phe)	SHANK3 (S1510F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161550	NM_001372044.2(SHANK3):c.4619A>T (p.Tyr1540Phe)	SHANK3 (Y1465F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161549	NM_001372044.2(SHANK3):c.4148C>T (p.Pro1383Leu)	SHANK3 (P1308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161548	NM_001372044.2(SHANK3):c.4004G>C (p.Gly1335Ala)	SHANK3 (G1260A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161547	NM_001372044.2(SHANK3):c.3970G>A (p.Glu1324Lys)	SHANK3 (E1249K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161546	NM_001372044.2(SHANK3):c.3064C>G (p.Pro1022Ala)	SHANK3 (P947A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161545	NM_001372044.2(SHANK3):c.2948C>T (p.Pro983Leu)	SHANK3 (P983L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161544	NM_001372044.2(SHANK3):c.2819C>G (p.Ala940Gly)	SHANK3 (A865G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161543	NM_001372044.2(SHANK3):c.2633T>C (p.Met878Thr)	SHANK3 (M878T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161542	NM_001372044.2(SHANK3):c.2285C>A (p.Thr762Asn)	SHANK3 (T687N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161541	NM_001372044.2(SHANK3):c.1579C>G (p.Pro527Ala)	SHANK3 (P527A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161540	NM_001372044.2(SHANK3):c.1480A>G (p.Ser494Gly)	SHANK3 (S494G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161539	NM_001372044.2(SHANK3):c.1473C>G (p.Asp491Glu)	SHANK3 (D416E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3068961	NM_001372044.2(SHANK3):c.796A>G (p.Thr266Ala)	SHANK3 (T191A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068960	NM_001372044.2(SHANK3):c.902G>C (p.Gly301Ala)	SHANK3 (G226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064112	NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)	SHANK3 (H1064fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GPathogenic
Select item 3062464	GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3	ACR, ARSA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062453	GRCh37/hg19 22q13.33(chr22:51122307-51197838)x1	ACR, SHANK3	Copy number loss	not specified	GPathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062448	GRCh37/hg19 22q13.33(chr22:51121362-51197838)x1	ACR, SHANK3	Copy number loss	not specified	GPathogenic
Select item 3062444	GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1	ACR, ARSA +2 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	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 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 3061157	NM_001372044.2(SHANK3):c.3130C>G (p.Leu1044Val)	SHANK3 (L1044V +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3052924	NM_001372044.2(SHANK3):c.1188+8G>A	SHANK3	Single nucleotide variant (intron variant)	SHANK3-related disorder	GLikely benign
Select item 3049722	NM_001372044.2(SHANK3):c.*50del	SHANK3	Deletion (3 prime UTR variant)	SHANK3-related disorder	GLikely benign
Select item 3049652	NM_001372044.2(SHANK3):c.1111-8C>T	SHANK3	Single nucleotide variant (intron variant)	SHANK3-related disorder	GBenign
Select item 3049608	NM_001372044.2(SHANK3):c.1188+7C>T	SHANK3	Single nucleotide variant (intron variant)	SHANK3-related disorder	GBenign
Select item 3048127	NM_001372044.2(SHANK3):c.4557C>T (p.Ala1519=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3047200	NM_001372044.2(SHANK3):c.5135C>T (p.Pro1712Leu)	SHANK3 (P1637L +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GLikely benign
Select item 3046475	NM_001372044.2(SHANK3):c.3404C>G (p.Thr1135Ser)	SHANK3 (T1060S +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3046003	NM_001372044.2(SHANK3):c.3297C>T (p.Arg1099=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3044597	NM_001372044.2(SHANK3):c.1431C>T (p.Leu477=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3043015	NM_033517.1:c.891C>T	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GBenign
Select item 3041782	NM_001372044.2(SHANK3):c.5130C>T (p.Arg1710=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GBenign
Select item 3041227	NM_001372044.2(SHANK3):c.3765C>A (p.Val1255=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3039008	NM_001372044.2(SHANK3):c.1986G>A (p.Arg662=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3038556	NM_001372044.2(SHANK3):c.3648C>T (p.Pro1216=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3037989	NM_001372044.2(SHANK3):c.*29T>G	SHANK3	Single nucleotide variant (3 prime UTR variant)	SHANK3-related disorder	GLikely benign
Select item 3036892	NM_001372044.2(SHANK3):c.714G>A (p.Thr238=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3036497	NM_001372044.2(SHANK3):c.1191-6C>T	SHANK3	Single nucleotide variant (intron variant)	SHANK3-related disorder	GLikely benign
Select item 3035881	NM_001372044.2(SHANK3):c.3341C>A (p.Ala1114Asp)	SHANK3 (A1039D +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3034280	NM_001372044.2(SHANK3):c.1056G>T (p.Gly352=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3033611	NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)	SHANK3 (L1319R +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GLikely benign
Select item 3033270	NM_001372044.2(SHANK3):c.3790G>C (p.Glu1264Gln)	SHANK3 (E1189Q +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3032525	NM_001372044.2(SHANK3):c.315G>A (p.Ala105=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3032475	NM_001372044.2(SHANK3):c.3345C>T (p.Pro1115=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3031674	NM_001372044.2(SHANK3):c.1066G>A (p.Ala356Thr)	SHANK3 (A281T +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3030717	NM_001372044.2(SHANK3):c.3539G>T (p.Ser1180Ile)	SHANK3 (S1105I +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3030355	NM_001372044.2(SHANK3):c.477C>T (p.Pro159=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3030259	NM_001372044.2(SHANK3):c.5043dup (p.Thr1682fs)	SHANK3 (T1682fs)	Duplication (frameshift variant)	SHANK3-related disorder	GLikely pathogenic
Select item 3030067	NM_001372044.2(SHANK3):c.3736G>C (p.Val1246Leu)	SHANK3 (V1171L +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GUncertain significance
Select item 3030056	NM_001372044.2(SHANK3):c.1138C>G (p.Arg380Gly)	SHANK3 (R305G +1 more)	Single nucleotide variant (missense variant)	SHANK3-related disorder	GLikely pathogenic
Select item 3029470	NM_001372044.2(SHANK3):c.783C>T (p.Ala261=)	SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related disorder	GLikely benign
Select item 3027296	NM_001372044.2(SHANK3):c.2220-83G>A	SHANK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026955	NM_001372044.2(SHANK3):c.2220-23C>T	SHANK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026895	NM_001372044.2(SHANK3):c.2039C>G (p.Pro680Arg)	LOC126863188, SHANK3 (P605R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026486	NM_001372044.2(SHANK3):c.2958G>C (p.Ala986=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026391	NM_001372044.2(SHANK3):c.312C>A (p.Ala104=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026249	NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)	SHANK3 (T158M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026192	NM_001372044.2(SHANK3):c.16GCC[9] (p.Ala13_Pro14insAla)	SHANK3	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 3026164	NM_001372044.2(SHANK3):c.3327C>A (p.Ala1109=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025768	NM_001372044.2(SHANK3):c.2421C>T (p.Asp807=)	SHANK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024624	GRCh37/hg19 22q13.33(chr22:51123013-51220722)x1	ACR, RABL2B +1 more	Copy number loss	not provided	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, BRD1 +35 more	Copy number loss	not provided	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 2685684	GRCh37/hg19 22q13.33(chr22:51073380-51197838)x1	ACR, SHANK3	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 more	Copy number gain	not provided	GUncertain significance

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