ClinVar for Gene (Select 64757) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2545215	NM_022746.4(MTARC1):c.799G>C (p.Val267Leu)	MTARC1 (V267L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542159	NM_022746.4(MTARC1):c.332G>A (p.Arg111His)	MTARC1 (R111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513503	NM_022746.4(MTARC1):c.892C>T (p.Arg298Cys)	LOC126806018, MTARC1 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480096	NM_022746.4(MTARC1):c.329C>T (p.Pro110Leu)	MTARC1 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470170	NM_022746.4(MTARC1):c.152T>C (p.Leu51Pro)	MTARC1 (L51P)	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	MTARC1, BPNT1 +11 more	Deletion	Warburg micro syndrome 2 +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	ABCB10, ACBD3 +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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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 787652	NM_022746.4(MTARC1):c.888-10C>T	LOC126806018, MTARC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779860	NM_022746.4(MTARC1):c.357C>T (p.Cys119=)	MTARC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773643	NM_022746.4(MTARC1):c.660G>A (p.Ser220=)	MTARC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773642	NM_022746.4(MTARC1):c.286G>C (p.Val96Leu)	MTARC1 (V96L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708513	NM_022746.4(MTARC1):c.560T>A (p.Met187Lys)	MTARC1 (M187K)	Single nucleotide variant (missense variant)	not provided	GBenign
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	CAPN9, CATSPERE +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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	EGLN1, EIF2D +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 +1427 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 +1325 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	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 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

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Links from Gene

Items: 44