ClinVar for Gene (Select 1787) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182071	NM_004412.7(TRDMT1):c.826T>C (p.Tyr276His)	TRDMT1 (Y230H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182069	NM_004412.7(TRDMT1):c.352T>G (p.Leu118Val)	TRDMT1 (L118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182067	NM_004412.7(TRDMT1):c.170T>C (p.Ile57Thr)	TRDMT1 (I57T)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3182066	NM_004412.7(TRDMT1):c.152A>C (p.Gln51Pro)	TRDMT1 (S18R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182065	NM_004412.7(TRDMT1):c.118A>G (p.Asn40Asp)	TRDMT1 (N40D)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3182064	NM_004412.7(TRDMT1):c.1102C>G (p.Gln368Glu)	TRDMT1 (Q361E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623126	NM_004412.7(TRDMT1):c.230C>T (p.Pro77Leu)	TRDMT1 (P77L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616802	NM_004412.7(TRDMT1):c.1135G>C (p.Val379Leu)	TRDMT1 (V372L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608234	NM_004412.7(TRDMT1):c.454A>G (p.Thr152Ala)	TRDMT1 (T106A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588842	NM_004412.7(TRDMT1):c.61A>G (p.Arg21Gly)	TRDMT1 (R21G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2544833	NM_004412.7(TRDMT1):c.1105C>T (p.Arg369Cys)	TRDMT1 (R369C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511455	NM_004412.7(TRDMT1):c.287C>T (p.Thr96Met)	TRDMT1 (T37M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511099	NM_004412.7(TRDMT1):c.76C>G (p.Pro26Ala)	TRDMT1 (P26A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481918	NM_004412.7(TRDMT1):c.931G>A (p.Ala311Thr)	TRDMT1 (A233T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468989	NM_004412.7(TRDMT1):c.1091T>C (p.Ile364Thr)	TRDMT1 (I357T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407652	NM_004412.7(TRDMT1):c.409A>G (p.Ile137Val)	TRDMT1 (I137V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404267	NM_004412.7(TRDMT1):c.187G>C (p.Glu63Gln)	TRDMT1 (E63Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393269	NM_004412.7(TRDMT1):c.460C>A (p.Leu154Ile)	TRDMT1 (L73I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348978	NM_004412.7(TRDMT1):c.554A>G (p.Glu185Gly)	TRDMT1 (E104G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321654	NM_004412.7(TRDMT1):c.1012C>T (p.Leu338Phe)	TRDMT1 (L331F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298524	NM_004412.7(TRDMT1):c.278A>G (p.Asp93Gly)	TRDMT1 (D93G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275799	NM_004412.7(TRDMT1):c.574G>C (p.Val192Leu)	TRDMT1 (V111L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275798	NM_004412.7(TRDMT1):c.572C>T (p.Ser191Phe)	TRDMT1 (S120F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275797	NM_004412.7(TRDMT1):c.570A>T (p.Glu190Asp)	TRDMT1 (E119D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227023	NM_004412.7(TRDMT1):c.260G>A (p.Arg87Gln)	TRDMT1 (R87Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1410118	NC_000010.10:g.(?_16866974)_(18828653_?)dup	CACNB2, CUBN +6 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 780850	NM_004412.7(TRDMT1):c.547C>T (p.Leu183=)	TRDMT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769768	NM_004412.7(TRDMT1):c.678T>G (p.Asp226Glu)	TRDMT1 (D155E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685238	GRCh37/hg19 10p13-12.33(chr10:17191691-17663784)x3	HACD1, ST8SIA6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441870	GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3	ARL5B, CACNB2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 153711	GRCh38/hg38 10p13(chr10:16711539-17263602)x3	CUBN, LOC111501766 +23 more	Copy number gain	See cases	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47