5605[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 1220587	NM_030662.4(MAP2K2):c.*174C>A	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227853	NM_030662.4(MAP2K2):c.*24C>G	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 40848	NM_030662.4(MAP2K2):c.*24C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 388412	NM_030662.4(MAP2K2):c.*20G>A	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 138164	NM_030662.3(MAP2K2):c.*19C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 382115	NM_030662.4(MAP2K2):c.*14C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 46224	NM_030662.4(MAP2K2):c.*9G>A	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 46223	NM_030662.3(MAP2K2):c.*8C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	RASopathy	GLikely benign FDA Recognized database
Select item 383208	NM_030662.4(MAP2K2):c.*2A>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2548628	NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)	MAP2K2 (V400L)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 40847	NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)	MAP2K2 (V400M)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 2979927	NM_030662.4(MAP2K2):c.1197C>G (p.Ala399=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 496470	NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2081253	NM_030662.4(MAP2K2):c.1196C>T (p.Ala399Val)	MAP2K2 (A399V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1027629	NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr)	MAP2K2 (A399T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 40846	NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 2968748	NM_030662.4(MAP2K2):c.1193C>G (p.Thr398Ser)	MAP2K2 (T398S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1710619	NM_030662.4(MAP2K2):c.1192A>C (p.Thr398Pro)	MAP2K2 (T398P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348051	NM_030662.4(MAP2K2):c.1191C>A (p.Arg397=)	MAP2K2	Single nucleotide variant (synonymous variant)	MAP2K2-related disorder	GLikely benign
Select item 697209	NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2870053	NM_030662.4(MAP2K2):c.1190G>T (p.Arg397Leu)	MAP2K2 (R397L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 40844	NM_030662.4(MAP2K2):c.1190G>A (p.Arg397His)	MAP2K2 (R397H)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 180910	NM_030662.4(MAP2K2):c.1189C>T (p.Arg397Cys)	MAP2K2 (R397C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2054532	NM_030662.4(MAP2K2):c.1188G>A (p.Thr396=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 279960	NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	MAP2K2 (T396M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 1037390	NM_030662.4(MAP2K2):c.1185del (p.Thr396fs)	MAP2K2 (T396fs)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 1002402	NM_030662.4(MAP2K2):c.1184C>G (p.Pro395Arg)	MAP2K2 (P395R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 996277	NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 2912384	NM_030662.4(MAP2K2):c.1181C>T (p.Thr394Ile)	MAP2K2 (T394I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 180909	NM_030662.4(MAP2K2):c.1180A>T (p.Thr394Ser)	MAP2K2 (T394S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2882490	NM_030662.4(MAP2K2):c.1178G>T (p.Gly393Val)	MAP2K2 (G393V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 837895	NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser)	MAP2K2 (G393S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 496472	NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2158666	NM_030662.4(MAP2K2):c.1170C>G (p.Asn390Lys)	MAP2K2 (N390K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 513229	NM_030662.4(MAP2K2):c.1167G>A (p.Leu389=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1987944	NM_030662.4(MAP2K2):c.1165C>T (p.Leu389=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1005324	NM_030662.4(MAP2K2):c.1163G>A (p.Arg388Gln)	MAP2K2 (R388Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1737151	NM_030662.4(MAP2K2):c.1162C>A (p.Arg388=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 40843	NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	MAP2K2 (R388W)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1635966	NM_030662.4(MAP2K2):c.1159C>T (p.Leu387=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2727134	NM_030662.4(MAP2K2):c.1158C>T (p.Thr386=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2898766	NM_030662.4(MAP2K2):c.1157C>A (p.Thr386Asn)	MAP2K2 (T386N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1506401	NM_030662.4(MAP2K2):c.1157C>T (p.Thr386Ile)	MAP2K2 (T386I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1308219	NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)	MAP2K2 (C384Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2843440	NM_030662.4(MAP2K2):c.1150T>C (p.Cys384Arg)	MAP2K2 (C384R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1525536	NM_030662.4(MAP2K2):c.1141G>A (p.Gly381Ser)	MAP2K2 (G381S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 50938	NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1438169	NM_030662.4(MAP2K2):c.1138G>A (p.Ala380Thr)	MAP2K2 (A380T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2697388	NM_030662.4(MAP2K2):c.1130T>C (p.Val377Ala)	MAP2K2 (V377A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2770949	NM_030662.4(MAP2K2):c.1123G>T (p.Glu375Ter)	MAP2K2 (E375*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2622926	NM_030662.4(MAP2K2):c.1120G>A (p.Val374Met)	MAP2K2 (V374M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1973996	NM_030662.4(MAP2K2):c.1117G>C (p.Glu373Gln)	MAP2K2 (E373Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1796590	NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)	MAP2K2 (E373K)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1796280	NM_030662.4(MAP2K2):c.1116C>G (p.Ser372=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1635039	NM_030662.4(MAP2K2):c.1116C>T (p.Ser372=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2199936	NM_030662.4(MAP2K2):c.1112G>T (p.Arg371Leu)	MAP2K2 (R371L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 40842	NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)	MAP2K2 (R371Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 572410	NM_030662.4(MAP2K2):c.1111C>T (p.Arg371Trp)	MAP2K2 (R371W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1398919	NM_030662.4(MAP2K2):c.1109A>T (p.Lys370Met)	MAP2K2 (K370M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 666426	NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)	MAP2K2 (K370R)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1334256	NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr)	MAP2K2 (I369T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2816445	NM_030662.4(MAP2K2):c.1105A>C (p.Ile369Leu)	MAP2K2 (I369L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1655927	NM_030662.4(MAP2K2):c.1101C>G (p.Thr367=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1504208	NM_030662.4(MAP2K2):c.1100C>A (p.Thr367Asn)	MAP2K2 (T367N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 46228	NM_030662.4(MAP2K2):c.1093-6T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 2026998	NM_030662.4(MAP2K2):c.1093-14_1093-11del	MAP2K2	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2026999	NM_030662.4(MAP2K2):c.1093-16T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1529198	NM_030662.4(MAP2K2):c.1093-19G>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1428897	NM_030662.4(MAP2K2):c.1093-19G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1194792	NM_030662.4(MAP2K2):c.1093-128G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561942	NM_030662.4(MAP2K2):c.1093-273C>T	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670957	NM_030662.4(MAP2K2):c.1092+341C>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GBenign
Select item 1196051	NM_030662.4(MAP2K2):c.1092+127G>A	MAP2K2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653127	NM_030662.4(MAP2K2):c.1092+16G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1394958	NM_030662.4(MAP2K2):c.1092+15C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1632290	NM_030662.4(MAP2K2):c.1092+14G>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2709680	NM_030662.4(MAP2K2):c.1092+7G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 632883	NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 514650	NM_030662.4(MAP2K2):c.1092A>G (p.Thr364=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3021502	NM_030662.4(MAP2K2):c.1090A>G (p.Thr364Ala)	MAP2K2 (T364A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1788423	NM_030662.4(MAP2K2):c.1089C>G (p.Leu363=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1434578	NM_030662.4(MAP2K2):c.1087C>T (p.Leu363Phe)	MAP2K2 (L363F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2957235	NM_030662.4(MAP2K2):c.1085T>G (p.Met362Arg)	MAP2K2 (M362R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 180908	NM_030662.4(MAP2K2):c.1085T>C (p.Met362Thr)	MAP2K2 (M362T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 928896	NM_030662.4(MAP2K2):c.1080G>A (p.Leu360=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1395596	NM_030662.4(MAP2K2):c.1074G>C (p.Ala358=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 261928	NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1963524	NM_030662.4(MAP2K2):c.1073C>T (p.Ala358Val)	MAP2K2 (A358V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 46227	NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

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