ClinVar for Gene (Select 117143) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173374	NM_053053.4(TADA1):c.943G>A (p.Glu315Lys)	TADA1 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173373	NM_053053.4(TADA1):c.827A>G (p.Asn276Ser)	TADA1 (N276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173372	NM_053053.4(TADA1):c.794G>C (p.Gly265Ala)	TADA1 (G265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173371	NM_053053.4(TADA1):c.634G>A (p.Val212Met)	TADA1 (V212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173369	NM_053053.4(TADA1):c.206G>A (p.Arg69His)	TADA1 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173367	NM_053053.4(TADA1):c.181G>A (p.Asp61Asn)	TADA1 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173366	NM_053053.4(TADA1):c.11T>A (p.Phe4Tyr)	TADA1 (F4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2611546	NM_053053.4(TADA1):c.538G>A (p.Glu180Lys)	TADA1 (E180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598964	NM_053053.4(TADA1):c.26A>G (p.Glu9Gly)	TADA1 (E9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540795	NM_053053.4(TADA1):c.56T>A (p.Leu19Gln)	LOC129931829, TADA1 (L19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517044	NM_053053.4(TADA1):c.746C>A (p.Pro249His)	TADA1 (P249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514012	NM_053053.4(TADA1):c.862A>G (p.Arg288Gly)	TADA1 (R288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482033	NM_053053.4(TADA1):c.505G>A (p.Glu169Lys)	TADA1 (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407312	NM_053053.4(TADA1):c.494A>T (p.Asp165Val)	TADA1 (D165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398501	NM_053053.4(TADA1):c.599G>C (p.Arg200Pro)	TADA1 (R200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339847	NM_053053.4(TADA1):c.856G>C (p.Val286Leu)	TADA1 (V286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338997	NM_053053.4(TADA1):c.395A>G (p.Asp132Gly)	TADA1 (D132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335404	NM_053053.4(TADA1):c.887T>C (p.Val296Ala)	TADA1 (V296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232679	NM_053053.4(TADA1):c.325T>C (p.Phe109Leu)	TADA1 (F109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219778	NM_053053.4(TADA1):c.268G>A (p.Ala90Thr)	TADA1 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	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 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 715435	NM_053053.4(TADA1):c.243A>T (p.Gly81=)	TADA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687239	GRCh37/hg19 1q24.1(chr1:165989619-166951388)x1	FAM78B, ILDR2 +2 more	Copy number loss	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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	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 150235	GRCh38/hg38 1q24.1(chr1:166031546-166979276)x1	FAM78B, FAM78B-AS1 +33 more	Copy number loss	See cases	GUncertain significance
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 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 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 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42