ClinVar for Gene (Select 1787) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328559	NM_004412.7(TRDMT1):c.568G>C (p.Glu190Gln)	TRDMT1 (E119Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328558	NM_004412.7(TRDMT1):c.775G>A (p.Asp259Asn)	TRDMT1 (D178N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 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	STAM, TRDMT1 +6 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +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)	INA, INPP5A +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	A1CF, ABCC2 +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	ABI1, ACBD5 +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

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Links from Gene

Items: 49