ClinVar for Gene (Select 2872) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295003	NM_199054.3(MKNK2):c.100G>A (p.Gly34Arg)	MKNK2 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295002	NM_199054.3(MKNK2):c.302G>A (p.Cys101Tyr)	MKNK2 (C101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295001	NM_199054.3(MKNK2):c.170C>T (p.Pro57Leu)	MKNK2 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217855	NM_199054.3(MKNK2):c.761C>T (p.Ala254Val)	LOC130063011, MKNK2 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216681	NM_199054.3(MKNK2):c.523C>T (p.Arg175Trp)	MKNK2 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215071	NM_199054.3(MKNK2):c.26T>C (p.Leu9Pro)	MKNK2 (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212647	NM_199054.3(MKNK2):c.1145T>C (p.Val382Ala)	MKNK2 (V382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2616702	NM_199054.3(MKNK2):c.385G>A (p.Glu129Lys)	MKNK2 (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603656	NM_199054.3(MKNK2):c.148G>A (p.Ala50Thr)	MKNK2 (A50T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600794	NM_199054.3(MKNK2):c.1256C>T (p.Ala419Val)	MKNK2 (A419V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549457	NM_199054.3(MKNK2):c.1132C>G (p.Pro378Ala)	MKNK2 (P378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536892	NM_199054.3(MKNK2):c.77T>C (p.Phe26Ser)	MKNK2 (F26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536891	NM_199054.3(MKNK2):c.76T>G (p.Phe26Val)	MKNK2 (F26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474634	NM_199054.3(MKNK2):c.503T>C (p.Leu168Pro)	MKNK2 (L168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466937	NM_199054.3(MKNK2):c.202C>T (p.Arg68Cys)	MKNK2 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2396689	NM_199054.3(MKNK2):c.25C>A (p.Leu9Ile)	MKNK2 (L9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395520	NM_199054.3(MKNK2):c.1334C>T (p.Ala445Val)	MKNK2 (A445V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389497	NM_199054.3(MKNK2):c.130G>A (p.Ala44Thr)	MKNK2 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326737	NM_199054.3(MKNK2):c.706A>C (p.Asn236His)	MKNK2 (N236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298421	NM_199054.3(MKNK2):c.1388A>T (p.Asp463Val)	MKNK2 (D463V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286753	NM_199054.3(MKNK2):c.74C>T (p.Ala25Val)	MKNK2 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283772	NM_199054.3(MKNK2):c.379T>C (p.Phe127Leu)	MKNK2 (F127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277963	NM_199054.3(MKNK2):c.514C>G (p.His172Asp)	MKNK2 (H172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260279	NM_199054.3(MKNK2):c.48C>G (p.Phe16Leu)	MKNK2 (F16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253440	NM_199054.3(MKNK2):c.215C>T (p.Thr72Ile)	MKNK2 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214710	NM_199054.3(MKNK2):c.66C>G (p.Phe22Leu)	MKNK2 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 770281	NM_199054.3(MKNK2):c.751-7C>T	LOC130063011, MKNK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689194	GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3	ABHD17A, ADAT3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
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 394313	GRCh37/hg19 19p13.3(chr19:1952590-2050814)x1	MKNK2, BTBD2 +1 more	Copy number loss	See cases	GBenign
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 221538	GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3	BTBD2, MKNK2 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	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 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61