MAPK1[gene] and "single gene"[properties] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708868	NM_002745.5(MAPK1):c.1071A>G (p.Gly357=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1804343	NM_002745.5(MAPK1):c.1054G>T (p.Ala352Ser)	MAPK1 (A352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367312	NM_002745.5(MAPK1):c.1012T>G (p.Leu338Val)	MAPK1 (L338V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663656	NM_002745.5(MAPK1):c.987C>G (p.Phe329Leu)	MAPK1 (F329L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253018	NM_002745.5(MAPK1):c.968C>A (p.Pro323His)	MAPK1 (P323H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	Abnormal facial shape +6 more	GPathogenic
Select item 376450	NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys)	MAPK1 (E322K)	Single nucleotide variant (missense variant)	Squamous cell carcinoma of the head and neck +3 more	GLikely pathogenic OLikely oncogenic
Select item 733407	NM_002745.5(MAPK1):c.963C>T (p.Asp321=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1695839	NM_002745.5(MAPK1):c.959G>T (p.Ser320Ile)	MAPK1 (S320I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029212	NM_002745.5(MAPK1):c.957G>A (p.Pro319=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 1704734	NM_002745.5(MAPK1):c.956C>T (p.Pro319Leu)	MAPK1 (P319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 3029555	NM_002745.5(MAPK1):c.951C>T (p.Tyr317=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 1804005	NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)	MAPK1 (Y316H)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 1307140	NM_002745.5(MAPK1):c.914A>G (p.Glu305Gly)	MAPK1 (E305G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571153	NM_002745.5(MAPK1):c.888C>T (p.Phe296=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652948	NM_002745.5(MAPK1):c.868T>C (p.Leu290=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672898	NM_002745.5(MAPK1):c.790T>C (p.Leu264=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299571	NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)	MAPK1 (I255V)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 2636465	NM_002745.5(MAPK1):c.725-4A>G	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GUncertain significance
Select item 2627243	NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)	MAPK1 (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048373	NM_002745.5(MAPK1):c.610-9C>T	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2577796	NM_002745.5(MAPK1):c.525T>A (p.Asp175Glu)	MAPK1 (D175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 3351320	NM_002745.5(MAPK1):c.492+10G>A	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2545949	NM_002745.5(MAPK1):c.490A>C (p.Lys164Gln)	MAPK1 (K164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652949	NM_002745.5(MAPK1):c.480C>T (p.Thr160=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370631	NM_002745.5(MAPK1):c.454C>T (p.Pro152Ser)	MAPK1 (P152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208698	NM_002745.5(MAPK1):c.404G>C (p.Arg135Thr)	MAPK1 (R135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1710541	NM_002745.5(MAPK1):c.358C>A (p.His120Asn)	MAPK1 (H120N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373126	NM_002745.5(MAPK1):c.357A>C (p.Gln119His)	MAPK1 (Q119H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2652950	NM_002745.5(MAPK1):c.330A>G (p.Thr110=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2582179	NM_002745.5(MAPK1):c.307A>G (p.Ile103Val)	MAPK1 (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057799	NM_002745.5(MAPK1):c.280A>G (p.Thr94Ala)	MAPK1 (T94A)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely benign
Select item 3029021	NM_002745.5(MAPK1):c.241G>A (p.Glu81Lys)	MAPK1 (E81K)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely pathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 1699351	NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)	MAPK1 (A52D)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance
Select item 3038296	NM_002745.5(MAPK1):c.120-20CT[5]	MAPK1	Microsatellite (intron variant)	MAPK1-related disorder	GLikely benign
Select item 2663452	NM_002745.5(MAPK1):c.103G>A (p.Ala35Thr)	MAPK1 (A35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723682	NM_002745.5(MAPK1):c.79A>G (p.Asn27Asp)	MAPK1 (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025167	NM_002745.5(MAPK1):c.63G>A (p.Val21=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809653	NM_002745.5(MAPK1):c.5CGG[8] (p.Ala7_Gly8insAlaAla)	MAPK1	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder +1 more	GUncertain significance
Select item 1174634	NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup)	MAPK1	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 3056129	NM_002745.5(MAPK1):c.5CGG[5] (p.Ala7del)	MAPK1 (A7del)	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder	GBenign
Select item 3359118	NM_002745.5(MAPK1):c.320T>C (p.Leu107Pro)	MAPK1 (L107P)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance

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Items: 48