ClinVar for Gene (Select 55700) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123176	NM_001388490.1(MAP7D1):c.970C>G (p.Gln324Glu)	MAP7D1 (Q324E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123175	NM_001388490.1(MAP7D1):c.693G>C (p.Trp231Cys)	LOC126805697, MAP7D1 (W231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123174	NM_001388490.1(MAP7D1):c.578G>A (p.Arg193His)	LOC126805697, MAP7D1 (R193H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123173	NM_001388490.1(MAP7D1):c.500C>T (p.Ala167Val)	MAP7D1 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123172	NM_001388490.1(MAP7D1):c.358G>C (p.Val120Leu)	MAP7D1 (V120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123171	NM_001388490.1(MAP7D1):c.323C>T (p.Pro108Leu)	MAP7D1 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123170	NM_001388490.1(MAP7D1):c.2252G>A (p.Arg751Gln)	MAP7D1 (R714Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123169	NM_001388490.1(MAP7D1):c.2223C>G (p.Ser741Arg)	MAP7D1 (S704R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123168	NM_001388490.1(MAP7D1):c.2182A>G (p.Lys728Glu)	LOC121725012, MAP7D1 (K696E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123167	NM_001388490.1(MAP7D1):c.1700C>A (p.Thr567Asn)	MAP7D1 (T535N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123166	NM_001388490.1(MAP7D1):c.1683G>C (p.Glu561Asp)	MAP7D1 (E529D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123165	NM_001388490.1(MAP7D1):c.1558G>T (p.Ala520Ser)	MAP7D1 (A483S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123164	NM_001388490.1(MAP7D1):c.1541C>G (p.Ala514Gly)	MAP7D1 (A482G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123163	NM_001388490.1(MAP7D1):c.1393G>A (p.Ala465Thr)	MAP7D1 (A465T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123162	NM_001388490.1(MAP7D1):c.1219C>T (p.Pro407Ser)	MAP7D1 (P407S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123161	NM_001388490.1(MAP7D1):c.1214G>T (p.Arg405Leu)	MAP7D1 (R368L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123160	NM_001388490.1(MAP7D1):c.1150C>A (p.Pro384Thr)	MAP7D1 (P384T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123159	NM_001388490.1(MAP7D1):c.106C>T (p.Pro36Ser)	MAP7D1 (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638668	NM_001388490.1(MAP7D1):c.108A>C (p.Pro36=)	MAP7D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614517	NM_001388490.1(MAP7D1):c.1502C>G (p.Thr501Ser)	MAP7D1 (T501S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602565	NM_001388490.1(MAP7D1):c.2501C>T (p.Pro834Leu)	MAP7D1 (P797L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598322	NM_001388490.1(MAP7D1):c.38C>T (p.Ala13Val)	MAP7D1 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593623	NM_001388490.1(MAP7D1):c.512G>A (p.Arg171Gln)	MAP7D1 (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591577	NM_001388490.1(MAP7D1):c.2418C>A (p.Asp806Glu)	MAP7D1 (D806E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560182	NM_001388490.1(MAP7D1):c.1216C>T (p.Arg406Trp)	MAP7D1 (R374W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556815	NM_001388490.1(MAP7D1):c.662A>G (p.Lys221Arg)	LOC126805697, MAP7D1 (K221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556814	NM_001388490.1(MAP7D1):c.659A>G (p.Lys220Arg)	LOC126805697, MAP7D1 (K220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555269	NM_001388490.1(MAP7D1):c.595C>T (p.Arg199Trp)	LOC126805697, MAP7D1 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547605	NM_001388490.1(MAP7D1):c.2078A>T (p.Glu693Val)	LOC121725012, MAP7D1 (E656V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526975	NM_001388490.1(MAP7D1):c.10G>A (p.Gly4Ser)	MAP7D1 (G4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489724	NM_001388490.1(MAP7D1):c.392A>C (p.Glu131Ala)	MAP7D1 (E131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484579	NM_001388490.1(MAP7D1):c.347C>T (p.Ser116Phe)	MAP7D1 (S116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465766	NM_001388490.1(MAP7D1):c.1913G>C (p.Arg638Pro)	MAP7D1 (R606P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410647	NM_001388490.1(MAP7D1):c.2471C>T (p.Ala824Val)	MAP7D1 (A792V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408810	NM_001388490.1(MAP7D1):c.1595G>C (p.Arg532Thr)	MAP7D1 (R500T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408007	NM_001388490.1(MAP7D1):c.229C>T (p.Pro77Ser)	MAP7D1 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403799	NM_001388490.1(MAP7D1):c.4G>A (p.Glu2Lys)	MAP7D1 (E2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395973	NM_001388490.1(MAP7D1):c.1204C>G (p.Pro402Ala)	MAP7D1 (P370A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389189	NM_001388490.1(MAP7D1):c.1331C>G (p.Pro444Arg)	MAP7D1 (P444R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358146	NM_001388490.1(MAP7D1):c.1051C>A (p.Arg351Ser)	MAP7D1 (R314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355288	NM_001388490.1(MAP7D1):c.62C>T (p.Thr21Ile)	MAP7D1 (T21I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348266	NM_001388490.1(MAP7D1):c.1931C>T (p.Ala644Val)	MAP7D1 (A607V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347921	NM_001388490.1(MAP7D1):c.1660A>C (p.Thr554Pro)	MAP7D1 (T554P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344763	NM_001388490.1(MAP7D1):c.1205C>T (p.Pro402Leu)	MAP7D1 (P365L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329386	NM_001388490.1(MAP7D1):c.2233G>C (p.Val745Leu)	MAP7D1 (V708L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322310	NM_001388490.1(MAP7D1):c.1144T>C (p.Cys382Arg)	MAP7D1 (C350R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316392	NM_001388490.1(MAP7D1):c.437G>A (p.Arg146Gln)	MAP7D1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314569	NM_001388490.1(MAP7D1):c.1840C>T (p.Arg614Trp)	MAP7D1 (R614W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303816	NM_001388490.1(MAP7D1):c.245C>T (p.Pro82Leu)	MAP7D1 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298118	NM_001388490.1(MAP7D1):c.1010G>T (p.Gly337Val)	MAP7D1 (G337V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291754	NM_001388490.1(MAP7D1):c.628C>T (p.Arg210Cys)	LOC126805697, MAP7D1 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291623	NM_001388490.1(MAP7D1):c.531G>T (p.Glu177Asp)	MAP7D1 (E177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282464	NM_001388490.1(MAP7D1):c.2402A>G (p.Asn801Ser)	MAP7D1 (N802S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277458	NM_001388490.1(MAP7D1):c.757G>C (p.Val253Leu)	MAP7D1 (V253L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236665	NM_001388490.1(MAP7D1):c.1744C>T (p.Pro582Ser)	MAP7D1 (P545S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233919	NM_001388490.1(MAP7D1):c.2434A>G (p.Thr812Ala)	MAP7D1 (T775A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233229	NM_001388490.1(MAP7D1):c.574C>T (p.Arg192Cys)	LOC126805697, MAP7D1 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222825	NM_001388490.1(MAP7D1):c.2501C>G (p.Pro834Arg)	MAP7D1 (P797R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209324	NM_001388490.1(MAP7D1):c.1649C>T (p.Ala550Val)	MAP7D1 (A518V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 771114	NM_001388490.1(MAP7D1):c.249G>A (p.Gln83=)	MAP7D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769509	NM_001388490.1(MAP7D1):c.542G>A (p.Arg181Gln)	MAP7D1 (R181Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713175	NM_001388490.1(MAP7D1):c.310C>T (p.Arg104Trp)	MAP7D1 (R104W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75