7015[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 3125323	NM_005588.3(MEP1A):c.68C>T (p.Pro23Leu)	MEP1A (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294246	NM_005588.3(MEP1A):c.108T>A (p.Asp36Glu)	MEP1A (D36E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3294248	NM_005588.3(MEP1A):c.190T>G (p.Ser64Ala)	MEP1A (S64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367594	NM_005588.3(MEP1A):c.197A>G (p.Asn66Ser)	MEP1A (N66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125321	NM_005588.3(MEP1A):c.503C>T (p.Ser168Leu)	MEP1A (S168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538693	NM_005588.3(MEP1A):c.509C>T (p.Thr170Met)	MEP1A (T170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483534	NM_005588.3(MEP1A):c.515G>T (p.Arg172Leu)	MEP1A (R172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461853	NM_005588.3(MEP1A):c.569A>G (p.Asn190Ser)	MEP1A (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358635	NM_005588.3(MEP1A):c.581A>G (p.Tyr194Cys)	MEP1A (Y194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125322	NM_005588.3(MEP1A):c.583G>A (p.Asp195Asn)	MEP1A (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208165	NM_005588.3(MEP1A):c.611C>T (p.Thr204Ile)	MEP1A (T204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294247	NM_005588.3(MEP1A):c.673G>A (p.Val225Ile)	MEP1A (V225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231997	NM_005588.3(MEP1A):c.686C>A (p.Thr229Lys)	MEP1A (T229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125324	NM_005588.3(MEP1A):c.692A>G (p.Lys231Arg)	MEP1A (K231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125325	NM_005588.3(MEP1A):c.718G>C (p.Gly240Arg)	MEP1A (G240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520191	NM_005588.3(MEP1A):c.740C>T (p.Ala247Val)	MEP1A (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125326	NM_005588.3(MEP1A):c.791C>G (p.Thr264Ser)	MEP1A (T264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546168	NM_005588.3(MEP1A):c.862G>A (p.Asp288Asn)	MEP1A (D288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125327	NM_005588.3(MEP1A):c.879C>G (p.Asp293Glu)	MEP1A (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125328	NM_005588.3(MEP1A):c.881G>A (p.Ser294Asn)	MEP1A (S294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299261	NM_005588.3(MEP1A):c.902A>G (p.Asp301Gly)	MEP1A (D301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552362	NM_005588.3(MEP1A):c.980C>G (p.Ala327Gly)	MEP1A (A327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681397	NM_005588.3(MEP1A):c.1093G>T (p.Asp365Tyr)	MEP1A (D365Y)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2213053	NM_005588.3(MEP1A):c.1108A>G (p.Asn370Asp)	MEP1A (N370D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742085	NM_005588.3(MEP1A):c.1152T>C (p.Asp384=)	MEP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375571	NM_005588.3(MEP1A):c.1180G>C (p.Val394Leu)	MEP1A (V394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286029	NM_005588.3(MEP1A):c.1204C>T (p.Arg402Cys)	MEP1A (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280065	NM_005588.3(MEP1A):c.1231G>A (p.Asp411Asn)	MEP1A (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125316	NM_005588.3(MEP1A):c.1258T>A (p.Tyr420Asn)	MEP1A (Y420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569818	NM_005588.3(MEP1A):c.1310C>A (p.Thr437Lys)	MEP1A (T437K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550879	NM_005588.3(MEP1A):c.1343C>G (p.Thr448Ser)	MEP1A (T448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592933	NM_005588.3(MEP1A):c.1373G>A (p.Arg458Gln)	MEP1A (R458Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454206	NM_005588.3(MEP1A):c.1403G>T (p.Gly468Val)	MEP1A (G468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544083	NM_005588.3(MEP1A):c.1414T>A (p.Tyr472Asn)	MEP1A (Y472N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247362	NM_005588.3(MEP1A):c.1492G>A (p.Glu498Lys)	MEP1A (E498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539519	NM_005588.3(MEP1A):c.1516G>A (p.Val506Met)	MEP1A (V506M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125317	NM_005588.3(MEP1A):c.1664C>T (p.Thr555Met)	MEP1A (T555M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125318	NM_005588.3(MEP1A):c.1723A>C (p.Met575Leu)	MEP1A (M575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125319	NM_005588.3(MEP1A):c.1919C>A (p.Pro640His)	MEP1A (P640H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274928	NM_005588.3(MEP1A):c.1949G>A (p.Arg650Gln)	MEP1A (R650Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294245	NM_005588.3(MEP1A):c.1958G>T (p.Arg653Leu)	MEP1A (R653L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294241	NM_005588.3(MEP1A):c.1963G>A (p.Val655Met)	MEP1A (V655M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601129	NM_005588.3(MEP1A):c.2047G>A (p.Gly683Ser)	MEP1A (G683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656632	NM_005588.3(MEP1A):c.2076G>A (p.Ala692=)	MEP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306953	NM_005588.3(MEP1A):c.2104T>G (p.Phe702Val)	MEP1A (F702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125320	NM_005588.3(MEP1A):c.2116G>T (p.Gly706Trp)	MEP1A (G706W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294242	NM_005588.3(MEP1A):c.2147G>A (p.Gly716Asp)	MEP1A (G716D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402935	NM_005588.3(MEP1A):c.2170G>A (p.Gly724Arg)	MEP1A (G724R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315028	NM_005588.3(MEP1A):c.2179G>A (p.Ala727Thr)	MEP1A (A727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294244	NM_005588.3(MEP1A):c.2218C>A (p.Leu740Ile)	MEP1A (L740I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563178	GRCh37/hg19 6p12.3(chr6:46717940-46925746)x3	ANKRD66, MEP1A +1 more	Copy number gain	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 58