TBCCD1[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148198	GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1	CRYGS, DGKG +24 more	Copy number loss	See cases	GUncertain significance
Select item 2299115	NM_018138.5(TBCCD1):c.1632C>G (p.Ser544Arg)	TBCCD1 (S448R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259345	NM_018138.5(TBCCD1):c.1561T>A (p.Phe521Ile)	TBCCD1 (F425I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324766	NM_018138.5(TBCCD1):c.1484G>T (p.Gly495Val)	TBCCD1 (G399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472437	NM_018138.5(TBCCD1):c.1450G>A (p.Gly484Arg)	TBCCD1 (G388R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781974	NM_018138.5(TBCCD1):c.1431G>A (p.Gly477=)	TBCCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591161	NM_018138.5(TBCCD1):c.1366A>G (p.Arg456Gly)	TBCCD1 (R360G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324765	NM_018138.5(TBCCD1):c.1363A>G (p.Thr455Ala)	TBCCD1 (T359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407640	NM_018138.5(TBCCD1):c.1292C>T (p.Ala431Val)	TBCCD1 (A431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268746	NM_018138.5(TBCCD1):c.1211G>A (p.Arg404His)	TBCCD1 (R404H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342477	NM_018138.5(TBCCD1):c.1210C>T (p.Arg404Cys)	TBCCD1 (R404C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465501	NM_018138.5(TBCCD1):c.1078A>G (p.Ile360Val)	TBCCD1 (I264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552920	NM_018138.5(TBCCD1):c.1016A>G (p.Glu339Gly)	TBCCD1 (E243G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207454	NM_018138.5(TBCCD1):c.1006C>T (p.Arg336Cys)	TBCCD1 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174768	NM_018138.5(TBCCD1):c.969C>A (p.Ser323Arg)	TBCCD1 (S323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174767	NM_018138.5(TBCCD1):c.968G>C (p.Ser323Thr)	TBCCD1 (S227T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324767	NM_018138.5(TBCCD1):c.896A>G (p.Asn299Ser)	TBCCD1 (N299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174765	NM_018138.5(TBCCD1):c.728G>A (p.Gly243Asp)	TBCCD1 (G147D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528655	NM_018138.5(TBCCD1):c.625G>C (p.Val209Leu)	TBCCD1 (V113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536312	NM_018138.5(TBCCD1):c.623C>T (p.Ala208Val)	TBCCD1 (A112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174764	NM_018138.5(TBCCD1):c.617G>A (p.Arg206Gln)	TBCCD1 (R110Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287763	NM_018138.5(TBCCD1):c.614C>T (p.Ser205Phe)	TBCCD1 (S109F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300678	NM_018138.5(TBCCD1):c.599A>G (p.His200Arg)	TBCCD1 (H200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174763	NM_018138.5(TBCCD1):c.568A>C (p.Lys190Gln)	TBCCD1 (K94Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454714	NM_018138.5(TBCCD1):c.527A>G (p.Tyr176Cys)	TBCCD1 (Y176C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174762	NM_018138.5(TBCCD1):c.517G>A (p.Ala173Thr)	TBCCD1 (A173T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402442	NM_018138.5(TBCCD1):c.379C>G (p.Gln127Glu)	TBCCD1 (Q31E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487063	NM_018138.5(TBCCD1):c.365T>C (p.Leu122Pro)	TBCCD1 (L122P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278090	NM_018138.5(TBCCD1):c.251T>C (p.Met84Thr)	TBCCD1 (M84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360102	NM_018138.5(TBCCD1):c.250A>G (p.Met84Val)	TBCCD1 (M84V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411254	NM_018138.5(TBCCD1):c.215C>T (p.Ala72Val)	TBCCD1 (A72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478301	NM_018138.5(TBCCD1):c.152G>A (p.Arg51His)	TBCCD1 (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238171	NM_018138.5(TBCCD1):c.151C>T (p.Arg51Cys)	TBCCD1 (R51C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268445	NM_018138.5(TBCCD1):c.149C>T (p.Pro50Leu)	TBCCD1 (P50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543449	NM_018138.5(TBCCD1):c.95A>G (p.Tyr32Cys)	TBCCD1 (Y32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174766	NM_018138.5(TBCCD1):c.77C>T (p.Ser26Phe)	TBCCD1 (S26F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1340541	GRCh37/hg19 3q27.3(chr3:186056143-186306541)x3	CRYGS, DGKG +2 more	Copy number gain	not provided	GUncertain significance
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980557	GRCh37/hg19 3q27.3(chr3:186048846-186298472)x3	DGKG, CRYGS +2 more	Copy number gain	not provided	GUncertain significance
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 78