ClinVar for Gene (Select 80133) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295948	NM_001163629.2(MROH9):c.280G>A (p.Asp94Asn)	MROH9 (D94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295947	NM_001163629.2(MROH9):c.216G>T (p.Met72Ile)	MROH9 (M72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295946	NM_001163629.2(MROH9):c.418G>A (p.Glu140Lys)	MROH9 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295945	NM_001163629.2(MROH9):c.557T>A (p.Ile186Asn)	MROH9 (I186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242279	GRCh37/hg19 1q24.2-25.1(chr1:170777501-173113232)x1	C1orf105, DNM3 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 3206525	NM_001163629.2(MROH9):c.817G>A (p.Ala273Thr)	MROH9 (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206521	NM_001163629.2(MROH9):c.751C>T (p.Pro251Ser)	MROH9 (P251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206500	NM_001163629.2(MROH9):c.522G>C (p.Glu174Asp)	MROH9 (E174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206481	NM_001163629.2(MROH9):c.1508C>T (p.Pro503Leu)	MROH9 (P503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206474	NM_001163629.2(MROH9):c.1316C>T (p.Pro439Leu)	MROH9 (P439L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206471	NM_001163629.2(MROH9):c.1254G>C (p.Gln418His)	MROH9 (Q418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206465	NM_001163629.2(MROH9):c.1232C>T (p.Ser411Phe)	MROH9 (S411F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206452	NM_001163629.2(MROH9):c.1061C>T (p.Ser354Phe)	MROH9 (S354F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639549	NM_001163629.2(MROH9):c.2253T>C (p.Tyr751=)	MROH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639548	NM_001163629.2(MROH9):c.1202A>T (p.Gln401Leu)	MROH9 (Q401L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639547	NM_001163629.2(MROH9):c.864C>T (p.Ala288=)	MROH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639546	NM_001163629.2(MROH9):c.706C>A (p.Gln236Lys)	MROH9 (Q236K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616617	NM_001163629.2(MROH9):c.223G>T (p.Val75Phe)	MROH9 (V75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599659	NM_001163629.2(MROH9):c.581T>C (p.Met194Thr)	MROH9 (M194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551678	NM_001163629.2(MROH9):c.1022C>A (p.Ala341Glu)	MROH9 (A341E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530787	NM_001163629.2(MROH9):c.1354C>G (p.Leu452Val)	MROH9 (L452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525045	NM_001163629.2(MROH9):c.1142T>C (p.Val381Ala)	MROH9 (V381A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474120	NM_001163629.2(MROH9):c.302A>G (p.Asn101Ser)	MROH9 (N101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467087	NM_001163629.2(MROH9):c.173A>G (p.Gln58Arg)	MROH9 (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461855	NM_001163629.2(MROH9):c.192G>C (p.Lys64Asn)	MROH9 (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404116	NM_001163629.2(MROH9):c.2536A>T (p.Ile846Leu)	MROH9 (I846L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382781	NM_001163629.2(MROH9):c.376G>A (p.Glu126Lys)	MROH9 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379244	NM_001163629.2(MROH9):c.385G>A (p.Val129Met)	MROH9 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365474	NM_001163629.2(MROH9):c.1393G>T (p.Asp465Tyr)	MROH9 (D465Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327787	NM_001163629.2(MROH9):c.587A>G (p.His196Arg)	MROH9 (H196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290185	NM_001163629.2(MROH9):c.1021G>A (p.Ala341Thr)	MROH9 (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290065	NM_001163629.2(MROH9):c.821C>T (p.Ser274Phe)	MROH9 (S274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273317	NM_001163629.2(MROH9):c.682G>A (p.Glu228Lys)	MROH9 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272064	NM_001163629.2(MROH9):c.1072G>A (p.Val358Met)	MROH9 (V358M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271852	NM_001163629.2(MROH9):c.541C>T (p.His181Tyr)	MROH9 (H181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266098	NM_001163629.2(MROH9):c.41T>C (p.Ile14Thr)	MROH9 (I14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261008	NM_001163629.2(MROH9):c.1249G>A (p.Ala417Thr)	MROH9 (A417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256238	NM_001163629.2(MROH9):c.871G>T (p.Val291Phe)	MROH9 (V291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252434	NM_001163629.2(MROH9):c.592C>T (p.Leu198Phe)	MROH9 (L198F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251781	NM_001163629.2(MROH9):c.1862C>T (p.Ser621Phe)	MROH9 (S621F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226327	NM_001163629.2(MROH9):c.1178A>C (p.Asn393Thr)	MROH9 (N393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 686750	GRCh37/hg19 1q24.2-24.3(chr1:170862952-171480090)x3	FMO1, FMO2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685249	GRCh37/hg19 1q24.2-24.3(chr1:170795854-171099345)x1	FMO3, MROH9	Copy number loss	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67