ClinVar for Gene (Select 11184) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293112	NM_001042600.3(MAP4K1):c.1321C>T (p.Pro441Ser)	MAP4K1 (P441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234627	NM_001042600.3(MAP4K1):c.1131T>A (p.Ser377=)	MAP4K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123075	NM_001042600.3(MAP4K1):c.842G>A (p.Arg281Gln)	MAP4K1 (R281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123073	NM_001042600.3(MAP4K1):c.2404G>A (p.Val802Met)	MAP4K1 (V802M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3123072	NM_001042600.3(MAP4K1):c.2392C>G (p.Pro798Ala)	MAP4K1 (P798A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123071	NM_001042600.3(MAP4K1):c.2110A>C (p.Ser704Arg)	MAP4K1 (S704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123070	NM_001042600.3(MAP4K1):c.209G>A (p.Arg70Gln)	MAP4K1 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123069	NM_001042600.3(MAP4K1):c.1742C>T (p.Pro581Leu)	MAP4K1, MAP4K1-AS1 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123068	NM_001042600.3(MAP4K1):c.1241T>A (p.Met414Lys)	MAP4K1 (M414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2649817	NM_001042600.3(MAP4K1):c.2202G>T (p.Pro734=)	MAP4K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649816	NM_001042600.3(MAP4K1):c.2211C>A (p.Ser737=)	MAP4K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601980	NM_001042600.3(MAP4K1):c.1489C>T (p.Arg497Trp)	MAP4K1, MAP4K1-AS1 (R497W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538429	NM_001042600.3(MAP4K1):c.2372C>T (p.Thr791Ile)	MAP4K1 (T791I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534128	NM_001042600.3(MAP4K1):c.1536G>T (p.Gln512His)	MAP4K1, MAP4K1-AS1 (Q512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531406	NM_001042600.3(MAP4K1):c.2336A>T (p.Asp779Val)	MAP4K1 (D779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512846	NM_001042600.3(MAP4K1):c.1598C>T (p.Thr533Met)	MAP4K1, MAP4K1-AS1 (T533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463727	NM_001042600.3(MAP4K1):c.2003C>G (p.Ser668Cys)	MAP4K1, MAP4K1-AS1 (S668C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2455616	NM_001042600.3(MAP4K1):c.1280G>A (p.Arg427Gln)	MAP4K1 (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 2412436	NM_001042600.3(MAP4K1):c.1355C>T (p.Ala452Val)	MAP4K1 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410558	NM_001042600.3(MAP4K1):c.1885A>G (p.Thr629Ala)	MAP4K1, MAP4K1-AS1 (T629A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401668	NM_001042600.3(MAP4K1):c.736G>T (p.Ala246Ser)	MAP4K1 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397055	NM_001042600.3(MAP4K1):c.1826C>T (p.Ala609Val)	MAP4K1, MAP4K1-AS1 (A609V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390636	NM_001042600.3(MAP4K1):c.1015A>G (p.Met339Val)	MAP4K1 (M339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363757	NM_001042600.3(MAP4K1):c.2366C>A (p.Thr789Asn)	MAP4K1 (T789N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339557	NM_001042600.3(MAP4K1):c.1135G>A (p.Asp379Asn)	MAP4K1 (D379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282807	NM_001042600.3(MAP4K1):c.1345C>T (p.His449Tyr)	MAP4K1 (H449Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278849	NM_001042600.3(MAP4K1):c.1982C>G (p.Ala661Gly)	MAP4K1, MAP4K1-AS1 (A661G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264841	NM_001042600.3(MAP4K1):c.1210C>T (p.Arg404Cys)	MAP4K1 (R404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239463	NM_001042600.3(MAP4K1):c.899T>C (p.Ile300Thr)	MAP4K1 (I300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234286	NM_001042600.3(MAP4K1):c.968G>A (p.Arg323His)	MAP4K1 (R323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220593	NM_001042600.3(MAP4K1):c.1069C>T (p.Arg357Cys)	MAP4K1 (R357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1223674	NC_000019.10:g.38587707G>C	MAP4K1, RYR1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 394022	GRCh37/hg19 19q13.2(chr19:39108036-39165341)x3	ACTN4, EIF3K +1 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44