ClinVar for Gene (Select 219793) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640560	NM_001318241.2(TBATA):c.81C>T (p.Arg27=)	TBATA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2599951	NM_001318241.2(TBATA):c.422C>G (p.Ser141Cys)	TBATA (S141C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589233	NM_001318241.2(TBATA):c.252C>A (p.His84Gln)	TBATA (H84Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2524518	NM_001318241.2(TBATA):c.227C>T (p.Ser76Phe)	TBATA (S76F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486642	NM_001318241.2(TBATA):c.568G>T (p.Gly190Trp)	TBATA (G190W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473100	NM_001318241.2(TBATA):c.188C>G (p.Thr63Ser)	TBATA (T63S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470983	NM_001318241.2(TBATA):c.535C>T (p.Arg179Trp)	TBATA (R178W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459759	NM_001318241.2(TBATA):c.962G>A (p.Ser321Asn)	TBATA (S321N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402183	NM_001318241.2(TBATA):c.137T>C (p.Ile46Thr)	TBATA (I46T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398695	NM_001318241.2(TBATA):c.80G>A (p.Arg27His)	TBATA (R27H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2384967	NM_001318241.2(TBATA):c.964G>A (p.Glu322Lys)	TBATA (E321K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378251	NM_001318241.2(TBATA):c.1048G>A (p.Ala350Thr)	TBATA (A349T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347625	NM_001318241.2(TBATA):c.464G>A (p.Arg155Gln)	TBATA (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341104	NM_001318241.2(TBATA):c.463C>T (p.Arg155Trp)	TBATA (R155W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324097	NM_001318241.2(TBATA):c.543G>C (p.Gln181His)	TBATA (Q181H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289424	NM_001318241.2(TBATA):c.493C>A (p.Leu165Met)	TBATA (L165M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264647	NM_001318241.2(TBATA):c.181C>T (p.Pro61Ser)	TBATA (P61S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255112	NM_001318241.2(TBATA):c.755T>C (p.Leu252Pro)	TBATA (L251P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240879	NM_001318241.2(TBATA):c.725C>A (p.Thr242Lys)	TBATA (T240K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239909	NM_001318241.2(TBATA):c.607C>T (p.Arg203Cys)	TBATA (R203C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232402	NM_001318241.2(TBATA):c.140T>C (p.Val47Ala)	TBATA (V47A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 691402	NM_001318241.2(TBATA):c.666T>C (p.Ala222=)	TBATA	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 375275	NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys)	TBATA (R53C)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38