DMTF1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 2310805	NM_001142327.2(DMTF1):c.52T>C (p.Ser18Pro)	DMTF1 (S18P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350623	NM_001142327.2(DMTF1):c.113C>T (p.Ala38Val)	DMTF1 (A38V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 749224	NM_001142327.2(DMTF1):c.114G>A (p.Ala38=)	DMTF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2532241	NM_001142327.2(DMTF1):c.214T>G (p.Ser72Ala)	DMTF1 (S72A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551034	NM_001142327.2(DMTF1):c.265A>G (p.Met89Val)	DMTF1 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083176	NM_001142327.2(DMTF1):c.298G>A (p.Val100Ile)	DMTF1 (V12I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3083177	NM_001142327.2(DMTF1):c.508C>A (p.Arg170Ser)	DMTF1 (R170S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495837	NM_001142327.2(DMTF1):c.509G>A (p.Arg170His)	DMTF1 (R170H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238432	NM_001142327.2(DMTF1):c.561G>A (p.Met187Ile)	DMTF1 (M99I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400700	NM_001142327.2(DMTF1):c.848G>C (p.Arg283Thr)	DMTF1 (R195T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595429	NM_001142327.2(DMTF1):c.941G>T (p.Gly314Val)	DMTF1 (G314V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478727	NM_001142327.2(DMTF1):c.1113G>C (p.Trp371Cys)	DMTF1 (W371C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083174	NM_001142327.2(DMTF1):c.1214G>C (p.Gly405Ala)	DMTF1 (G405A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609396	NM_001142327.2(DMTF1):c.1221A>T (p.Lys407Asn)	DMTF1 (K319N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383273	NM_001142327.2(DMTF1):c.1242A>C (p.Lys414Asn)	DMTF1 (K326N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218819	NM_001142327.2(DMTF1):c.1246A>C (p.Asn416His)	DMTF1 (N416H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384955	NM_001142327.2(DMTF1):c.1261G>A (p.Glu421Lys)	DMTF1 (E421K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550628	NM_001142327.2(DMTF1):c.1448C>A (p.Thr483Lys)	DMTF1 (T395K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490457	NM_001142327.2(DMTF1):c.1469C>A (p.Thr490Lys)	DMTF1 (T490K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539226	NM_001142327.2(DMTF1):c.1571C>T (p.Thr524Ile)	DMTF1 (T524I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781038	NM_001142327.2(DMTF1):c.1770A>C (p.Thr590=)	DMTF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2319918	NM_001142327.2(DMTF1):c.1972A>T (p.Thr658Ser)	DMTF1 (T570S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340212	NM_001142327.2(DMTF1):c.2075A>G (p.Asp692Gly)	DMTF1 (D604G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083175	NM_001142327.2(DMTF1):c.2107C>T (p.His703Tyr)	DMTF1 (H615Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355641	NM_001142327.2(DMTF1):c.2231G>A (p.Ser744Asn)	DMTF1 (S744N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381592	NM_001142327.2(DMTF1):c.2275T>C (p.Cys759Arg)	DMTF1 (C671R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 39