ClinVar for Gene (Select 257313) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247003	NC_000003.11:g.(?_189357602)_(192126012_?)del	CCDC50, CLDN1 +10 more	Deletion	not provided	GPathogenic
Select item 3188072	NM_198152.5(UTS2B):c.53C>A (p.Ser18Tyr)	UTS2B (S18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188070	NM_198152.5(UTS2B):c.122A>C (p.Asp41Ala)	UTS2B (D41A)	Single nucleotide variant (missense variant)	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 3062704	GRCh37/hg19 3q28-29(chr3:190400378-192919373)x1	CCDC50, FGF12 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3005401	NM_178335.3(CCDC50):c.49+6G>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2529721	NM_198152.5(UTS2B):c.217A>G (p.Asn73Asp)	UTS2B (N73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463051	NM_198152.5(UTS2B):c.140G>A (p.Arg47His)	UTS2B (R47H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426654	NC_000003.11:g.(?_189455509)_(192126012_?)dup	CCDC50, CLDN1 +10 more	Duplication	not provided	GUncertain significance
Select item 2424748	NC_000003.11:g.(?_188118572)_(192126012_?)dup	CCDC50, CLDN1 +13 more	Duplication	not provided	GUncertain significance
Select item 2424746	NC_000003.11:g.(?_188118572)_(192126012_?)del	CCDC50, CLDN1 +13 more	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2404118	NM_198152.5(UTS2B):c.80A>G (p.His27Arg)	UTS2B (H27R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1800758	NM_178335.3(CCDC50):c.33G>A (p.Leu11=)	CCDC50, UTS2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 1341254	GRCh37/hg19 3q28(chr3:190414517-191108120)x3	CCDC50, GMNC +2 more	Copy number gain	not provided	GUncertain significance
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1286281	NM_178335.3(CCDC50):c.49+231G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280397	NM_178335.3(CCDC50):c.49+232_49+233del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1276782	NM_178335.3(CCDC50):c.49+228G>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276371	NC_000003.12:g.191328981G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273417	NC_000003.12:g.191329004G>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268024	NC_000003.12:g.191328956C>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266348	NM_178335.3(CCDC50):c.49+233del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1264624	NC_000003.12:g.191329141C>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262490	NM_178335.3(CCDC50):c.49+231_49+233del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1260189	NM_178335.3(CCDC50):c.49+214G>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252176	NM_178335.3(CCDC50):c.49+248A>G	UTS2B, CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250130	NC_000003.12:g.191329088A>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248341	NM_178335.3(CCDC50):c.49+223G>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237149	NM_178335.3(CCDC50):c.49+231G>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236710	NM_178335.3(CCDC50):c.49+219T>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230089	NM_178335.3(CCDC50):c.49+255_49+258del	CCDC50, UTS2B	Deletion (intron variant)	not provided	GBenign
Select item 1211264	NM_178335.3(CCDC50):c.45G>A (p.Lys15=)	CCDC50, UTS2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1210754	NM_178335.3(CCDC50):c.-222C>T	UTS2B, CCDC50	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1208762	NC_000003.12:g.191329261G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197699	NM_178335.3(CCDC50):c.-63C>G	CCDC50, UTS2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1196503	NC_000003.12:g.191329292G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190935	NC_000003.12:g.191328941T>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187666	NC_000003.12:g.191329218G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980558	GRCh37/hg19 3q28(chr3:190968757-191112636)x1	CCDC50, UTS2B	Copy number loss	not provided	GUncertain significance
Select item 814509	GRCh37/hg19 3q28(chr3:190593853-191132748)x3	UTS2B, OSTN +1 more	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 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 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
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 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 262931	NM_178335.3(CCDC50):c.49+20A>G	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153784	GRCh38/hg38 3q28(chr3:191235578-191700274)x1	CCDC50, LOC123464487 +16 more	Copy number loss	See cases	GUncertain significance
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 153610	GRCh38/hg38 3q28(chr3:191322384-191384496)x3	CCDC50, LOC123464487 +1 more	Copy number gain	See cases	GUncertain significance
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 152040	GRCh38/hg38 3q28(chr3:191142435-191604084)x1	CCDC50, LOC123464487 +19 more	Copy number loss	See cases	GUncertain significance
Select item 151835	GRCh38/hg38 3q28(chr3:191142435-192393271)x1	CCDC50, FGF12 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147759	GRCh38/hg38 3q28(chr3:191319392-191543941)x1	CCDC50, LOC123464487 +5 more	Copy number loss	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 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 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	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

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Links from Gene

Items: 79