TMCC1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2278579	NM_001017395.5(TMCC1):c.1940G>C (p.Arg647Pro)	TMCC1 (R457P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362557	NM_001017395.5(TMCC1):c.1918G>A (p.Ala640Thr)	TMCC1 (A457T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223145	NM_001017395.5(TMCC1):c.1650G>C (p.Glu550Asp)	LOC123038181, TMCC1 (E367D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512516	NM_001017395.5(TMCC1):c.1409G>A (p.Arg470Gln)	TMCC1 (R297Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178277	NM_001017395.5(TMCC1):c.1402G>A (p.Glu468Lys)	TMCC1 (E285K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178276	NM_001017395.5(TMCC1):c.1387C>G (p.Leu463Val)	TMCC1 (L139V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252375	NM_001017395.5(TMCC1):c.1376T>C (p.Phe459Ser)	TMCC1 (F135S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178275	NM_001017395.5(TMCC1):c.1321G>A (p.Ala441Thr)	TMCC1 (A251T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489752	NM_001017395.5(TMCC1):c.946C>T (p.Arg316Trp)	TMCC1 (R143W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560307	NM_001017395.5(TMCC1):c.769G>A (p.Asp257Asn)	TMCC1 (D257N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329344	NM_001017395.5(TMCC1):c.764G>A (p.Arg255Gln)	TMCC1 (R131Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178279	NM_001017395.5(TMCC1):c.582A>C (p.Glu194Asp)	TMCC1 (E21D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 1247381	NM_001017395.5(TMCC1):c.493A>G (p.Ser165Gly)	TMCC1 (S165G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3178278	NM_001017395.5(TMCC1):c.446T>C (p.Met149Thr)	TMCC1 (M149T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295462	NM_001017395.5(TMCC1):c.337C>T (p.Pro113Ser)	TMCC1 (P113S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326560	NM_001017395.5(TMCC1):c.262G>C (p.Ala88Pro)	TMCC1 (A88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248381	NM_001017395.5(TMCC1):c.186G>T (p.Arg62Ser)	TMCC1 (R62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204738	NM_001017395.5(TMCC1):c.64G>A (p.Ala22Thr)	TMCC1 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494178	NM_001017395.5(TMCC1):c.7C>A (p.Pro3Thr)	TMCC1 (P3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148835	GRCh38/hg38 3q22.1(chr3:129855684-130536179)x1	ALG1L2, COL6A5 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2685931	GRCh37/hg19 3q22.1(chr3:129582090-129914957)x3	ALG1L2, TMCC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 35