ClinVar for Gene (Select 54996) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296518	NM_017898.5(MTARC2):c.902C>T (p.Pro301Leu)	MTARC2 (P301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296517	NM_017898.5(MTARC2):c.632C>T (p.Pro211Leu)	MTARC2 (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296516	NM_017898.5(MTARC2):c.983G>A (p.Gly328Asp)	MTARC2 (G328D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213454	NM_017898.5(MTARC2):c.97G>A (p.Val33Met)	MTARC2 (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213449	NM_017898.5(MTARC2):c.94G>A (p.Ala32Thr)	MTARC2 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213446	NM_017898.5(MTARC2):c.827C>T (p.Thr276Met)	MTARC2 (T276M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213442	NM_017898.5(MTARC2):c.779G>C (p.Ser260Thr)	MTARC2 (S260T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213440	NM_017898.5(MTARC2):c.721G>T (p.Val241Leu)	MTARC2 (V241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213437	NM_017898.5(MTARC2):c.583C>T (p.Leu195Phe)	MTARC2 (L195F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213435	NM_017898.5(MTARC2):c.50G>A (p.Arg17Gln)	MTARC2 (R17Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213431	NM_017898.5(MTARC2):c.485A>C (p.Asn162Thr)	MTARC2 (N162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213428	NM_017898.5(MTARC2):c.469G>A (p.Gly157Ser)	MTARC2 (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213425	NM_017898.5(MTARC2):c.468A>T (p.Lys156Asn)	MTARC2 (K156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213424	NM_017898.5(MTARC2):c.334G>A (p.Val112Met)	MTARC2 (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213421	NM_017898.5(MTARC2):c.256G>A (p.Gly86Ser)	MTARC2 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213419	NM_017898.5(MTARC2):c.241A>G (p.Met81Val)	MTARC2 (M81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213415	NM_017898.5(MTARC2):c.1000A>C (p.Met334Leu)	MTARC2 (M334L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2554732	NM_017898.5(MTARC2):c.911G>A (p.Arg304Lys)	MTARC2 (R304K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545815	NM_017898.5(MTARC2):c.563G>C (p.Gly188Ala)	MTARC2 (G188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426429	NC_000001.10:g.(?_220088791)_(220986760_?)dup	BPNT1, C1orf115 +9 more	Duplication	not provided	GUncertain significance
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC2, RAB3GAP2 +11 more	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 688023	GRCh37/hg19 1q41(chr1:219379258-222049547)x3	BPNT1, C1orf115 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565229	GRCh37/hg19 1q41(chr1:220659314-220984506)x1	MARK1, MTARC1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	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 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51