SYMPK[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 3172643	NM_004819.3(SYMPK):c.3745C>T (p.Pro1249Ser)	SYMPK (P1249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323876	NM_004819.3(SYMPK):c.3742G>A (p.Ala1248Thr)	SYMPK (A1248T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172642	NM_004819.3(SYMPK):c.3737C>G (p.Thr1246Ser)	SYMPK (T1246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323878	NM_004819.3(SYMPK):c.3700G>A (p.Gly1234Ser)	SYMPK (G1234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537101	NM_004819.3(SYMPK):c.3697G>C (p.Ala1233Pro)	SYMPK (A1233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650131	NM_004819.3(SYMPK):c.3663T>C (p.Ser1221=)	SYMPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257922	NM_004819.3(SYMPK):c.3621G>T (p.Met1207Ile)	SYMPK (M1207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251331	NM_004819.3(SYMPK):c.3578A>G (p.Glu1193Gly)	SYMPK (E1193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353531	NM_004819.3(SYMPK):c.3551C>T (p.Pro1184Leu)	SYMPK (P1184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172641	NM_004819.3(SYMPK):c.3550C>T (p.Pro1184Ser)	SYMPK (P1184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461237	NM_004819.3(SYMPK):c.3520C>A (p.Pro1174Thr)	SYMPK (P1174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232639	NM_004819.3(SYMPK):c.3509C>T (p.Ser1170Phe)	SYMPK (S1170F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484277	NM_004819.3(SYMPK):c.3488G>T (p.Gly1163Val)	SYMPK (G1163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509836	NM_004819.3(SYMPK):c.3392C>T (p.Ala1131Val)	SYMPK (A1131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392732	NM_004819.3(SYMPK):c.3357T>G (p.Asp1119Glu)	SYMPK (D1119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401208	NM_004819.3(SYMPK):c.3343C>T (p.Pro1115Ser)	SYMPK (P1115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172640	NM_004819.3(SYMPK):c.3232C>T (p.His1078Tyr)	SYMPK (H1078Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463195	NM_004819.3(SYMPK):c.3064C>T (p.Arg1022Cys)	SYMPK (R1022C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606584	NM_004819.3(SYMPK):c.2731A>G (p.Ile911Val)	SYMPK (I911V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262772	NM_004819.3(SYMPK):c.2675T>C (p.Ile892Thr)	SYMPK (I892T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172639	NM_004819.3(SYMPK):c.2402A>T (p.Asn801Ile)	SYMPK (N801I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172638	NM_004819.3(SYMPK):c.2297C>T (p.Pro766Leu)	SYMPK (P766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323873	NM_004819.3(SYMPK):c.2237G>A (p.Arg746Gln)	SYMPK (R746Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410163	NM_004819.3(SYMPK):c.2212C>T (p.Arg738Cys)	SYMPK (R738C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323874	NM_004819.3(SYMPK):c.2149C>G (p.Leu717Val)	SYMPK (L717V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364721	NM_004819.3(SYMPK):c.2099G>A (p.Arg700Gln)	SYMPK (R700Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538624	NM_004819.3(SYMPK):c.2030G>A (p.Ser677Asn)	SYMPK (S677N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172637	NM_004819.3(SYMPK):c.1901G>T (p.Gly634Val)	SYMPK (G634V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617522	NM_004819.3(SYMPK):c.1897G>A (p.Ala633Thr)	SYMPK (A633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172636	NM_004819.3(SYMPK):c.1888T>C (p.Tyr630His)	SYMPK (Y630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650132	NM_004819.3(SYMPK):c.1844G>A (p.Arg615His)	SYMPK (R615H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524708	NM_004819.3(SYMPK):c.1843C>T (p.Arg615Cys)	SYMPK (R615C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303298	NM_004819.3(SYMPK):c.1817C>A (p.Ser606Tyr)	SYMPK (S606Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245978	NM_004819.3(SYMPK):c.1714G>A (p.Ala572Thr)	SYMPK (A572T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545973	NM_004819.3(SYMPK):c.1645G>A (p.Val549Met)	SYMPK (V549M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650133	NM_004819.3(SYMPK):c.1641C>T (p.Ser547=)	SYMPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474024	NM_004819.3(SYMPK):c.1559A>G (p.Lys520Arg)	SYMPK (K520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364795	NM_004819.3(SYMPK):c.1554G>T (p.Gln518His)	SYMPK (Q518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474420	NM_004819.3(SYMPK):c.1502C>T (p.Ser501Leu)	SYMPK (S501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476682	NM_004819.3(SYMPK):c.1379C>G (p.Ala460Gly)	SYMPK (A460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489405	NM_004819.3(SYMPK):c.1340A>C (p.Lys447Thr)	SYMPK (K447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650134	NM_004819.3(SYMPK):c.1326G>A (p.Thr442=)	SYMPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172634	NM_004819.3(SYMPK):c.1171G>A (p.Gly391Ser)	SYMPK (G391S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542189	NM_004819.3(SYMPK):c.1130C>G (p.Pro377Arg)	SYMPK (P377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462175	NM_004819.3(SYMPK):c.1040A>G (p.Lys347Arg)	SYMPK (K347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315233	NM_004819.3(SYMPK):c.1010G>T (p.Arg337Leu)	SYMPK (R337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521895	NM_004819.3(SYMPK):c.721A>C (p.Lys241Gln)	SYMPK (K241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514486	NM_004819.3(SYMPK):c.688G>C (p.Glu230Gln)	SYMPK (E230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460500	NM_004819.3(SYMPK):c.632T>C (p.Ile211Thr)	SYMPK (I211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479113	NM_004819.3(SYMPK):c.617G>A (p.Arg206His)	SYMPK (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409136	NM_004819.3(SYMPK):c.617G>T (p.Arg206Leu)	SYMPK (R206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172644	NM_004819.3(SYMPK):c.586C>A (p.Pro196Thr)	SYMPK (P196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397470	NM_004819.3(SYMPK):c.572T>C (p.Ile191Thr)	SYMPK (I191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530192	NM_004819.3(SYMPK):c.416T>C (p.Val139Ala)	SYMPK (V139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461557	NM_004819.3(SYMPK):c.280G>A (p.Gly94Ser)	SYMPK (G94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323877	NM_004819.3(SYMPK):c.256A>G (p.Ile86Val)	SYMPK (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172635	NM_004819.3(SYMPK):c.148T>G (p.Ser50Ala)	SYMPK (S50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323879	NM_004819.3(SYMPK):c.143A>G (p.Asn48Ser)	SYMPK (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323875	NM_004819.3(SYMPK):c.82G>A (p.Asp28Asn)	SYMPK (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377479	NM_004819.3(SYMPK):c.74C>T (p.Pro25Leu)	SYMPK (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244406	NM_004819.3(SYMPK):c.53T>A (p.Phe18Tyr)	SYMPK (F18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	CCDC61, DMPK +14 more	Copy number gain	not provided	GUncertain significance
Select item 564584	GRCh37/hg19 19q13.32(chr19:46361535-46573564)x3	NANOS2, IGFL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 72