DPT[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 151207	GRCh38/hg38 1q24.2(chr1:168480792-168743193)x1	DPT, LOC101928565 +6 more	Copy number loss	See cases	GUncertain significance
Select item 149155	GRCh38/hg38 1q24.2(chr1:168498046-169184625)x4	ATP1B1, DPT +19 more	Copy number gain	See cases	GUncertain significance
Select item 145901	GRCh38/hg38 1q24.2(chr1:168673294-168952481)x3	DPT, LINC00626 +3 more	Copy number gain	See cases	GLikely benign
Select item 728993	NM_001937.5(DPT):c.601G>A (p.Val201Ile)	DPT (V201I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789696	NM_001937.5(DPT):c.582C>T (p.Tyr194=)	DPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273672	NM_001937.5(DPT):c.569G>A (p.Arg190Gln)	DPT (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224834	NM_001937.5(DPT):c.544C>T (p.Arg182Cys)	DPT (R182C)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GPathogenic
Select item 2542595	NM_001937.5(DPT):c.458A>G (p.Tyr153Cys)	DPT (Y153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273675	NM_001937.5(DPT):c.414G>A (p.Arg138=)	DPT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3273673	NM_001937.5(DPT):c.401G>A (p.Arg134His)	DPT (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085601	NM_001937.5(DPT):c.400C>T (p.Arg134Cys)	DPT (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726434	NM_001937.5(DPT):c.390T>C (p.Phe130=)	DPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508135	NM_001937.5(DPT):c.377G>A (p.Arg126Gln)	DPT (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739601	NM_001937.5(DPT):c.361G>A (p.Glu121Lys)	DPT (E121K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 752257	NM_001937.5(DPT):c.264G>A (p.Thr88=)	DPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729661	NM_001937.5(DPT):c.248G>T (p.Ser83Ile)	DPT (S83I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2551933	NM_001937.5(DPT):c.241C>A (p.Pro81Thr)	DPT (P81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710259	NM_001937.5(DPT):c.205T>A (p.Ser69Thr)	DPT (S69T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2358798	NM_001937.5(DPT):c.175G>A (p.Val59Met)	DPT (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790493	NM_001937.5(DPT):c.174C>A (p.Ala58=)	DPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273674	NM_001937.5(DPT):c.139A>G (p.Ser47Gly)	DPT (S47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595765	NM_001937.5(DPT):c.128G>A (p.Arg43Gln)	DPT (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620017	NM_001937.5(DPT):c.102C>A (p.Ser34Arg)	DPT (S34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730477	NM_001937.5(DPT):c.102C>T (p.Ser34=)	DPT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2290626	NM_001937.5(DPT):c.86A>G (p.Gln29Arg)	DPT (Q29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720997	NM_001937.5(DPT):c.8T>C (p.Leu3Pro)	DPT (L3P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778238	NM_001937.5(DPT):c.5A>C (p.Asp2Ala)	DPT (D2A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808267	GRCh37/hg19 1q24.2(chr1:168675820-169363333)x1	ATP1B1, BLZF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527370	GRCh37/hg19 1q24.2(chr1:168439652-168712431)	DPT, XCL1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979303	GRCh37/hg19 1q24.2(chr1:168439652-168708525)x1	DPT, XCL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 686398	GRCh37/hg19 1q24.2(chr1:168444195-168708524)x1	DPT, XCL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686162	GRCh37/hg19 1q24.2(chr1:168456873-169183290)x4	ATP1B1, DPT +3 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442609	GRCh37/hg19 1q24.2(chr1:168439652-168712431)x1	DPT, XCL1 +1 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 226131	GRCh37/hg19 1q24.2(chr1:168441289-168697617)	XCL2, DPT +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 53