18111[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 286

<< First< Prev

Page of 3

	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 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 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	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 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
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 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	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 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 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 153784	GRCh38/hg38 3q28(chr3:191235578-191700274)x1	CCDC50, LOC123464487 +16 more	Copy number loss	See cases	GUncertain significance
Select item 147759	GRCh38/hg38 3q28(chr3:191319392-191543941)x1	CCDC50, LOC123464487 +5 more	Copy number loss	See cases	GUncertain significance
Select item 153610	GRCh38/hg38 3q28(chr3:191322384-191384496)x3	CCDC50, LOC123464487 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1190935	NC_000003.12:g.191328941T>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268024	NC_000003.12:g.191328956C>T	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 1250130	NC_000003.12:g.191329088A>G	CCDC50, UTS2B	Single nucleotide variant (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 1187666	NC_000003.12:g.191329218G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	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 1196503	NC_000003.12:g.191329292G>A	CCDC50, UTS2B	Single nucleotide variant (intron variant)	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 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 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 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 3005401	NM_178335.3(CCDC50):c.49+6G>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1260189	NM_178335.3(CCDC50):c.49+214G>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 1280397	NM_178335.3(CCDC50):c.49+232_49+233del	CCDC50, UTS2B	Deletion (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 1262490	NM_178335.3(CCDC50):c.49+231_49+233del	CCDC50, UTS2B	Deletion (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 1276782	NM_178335.3(CCDC50):c.49+228G>C	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286281	NM_178335.3(CCDC50):c.49+231G>A	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 1252176	NM_178335.3(CCDC50):c.49+248A>G	UTS2B, CCDC50	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 1235084	NM_178335.3(CCDC50):c.50-86del	CCDC50	Deletion (intron variant)	not provided	GBenign
Select item 1271942	NM_178335.3(CCDC50):c.50-69dup	CCDC50	Duplication (intron variant)	not provided	GBenign
Select item 48155	NM_178335.3(CCDC50):c.50-4C>G	CCDC50	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 44 +2 more	GBenign
Select item 2528770	NM_178335.3(CCDC50):c.83C>T (p.Thr28Ile)	CCDC50 (T28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2754752	NM_178335.3(CCDC50):c.84C>T (p.Thr28=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712530	NM_178335.3(CCDC50):c.90T>C (p.Ala30=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682038	NM_178335.3(CCDC50):c.112+67C>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241246	NM_178335.3(CCDC50):c.112+73G>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271854	NM_178335.3(CCDC50):c.113-138A>G	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288489	NM_178335.3(CCDC50):c.113-131G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675241	NM_178335.3(CCDC50):c.113-36C>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505681	NM_178335.3(CCDC50):c.113-4C>G	CCDC50	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1471683	NM_178335.3(CCDC50):c.127G>A (p.Ala43Thr)	CCDC50 (A43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311289	NM_178335.3(CCDC50):c.134A>G (p.Asn45Ser)	CCDC50 (N45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504919	NM_178335.3(CCDC50):c.136G>A (p.Val46Ile)	CCDC50 (V46I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 162854	NM_178335.3(CCDC50):c.153G>A (p.Leu51=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1539613	NM_178335.3(CCDC50):c.168C>G (p.Leu56=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632482	NM_178335.3(CCDC50):c.171G>C (p.Gln57His)	CCDC50 (Q57H)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 804669	NM_178335.3(CCDC50):c.194A>G (p.Glu65Gly)	CCDC50 (E65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032557	NM_178335.3(CCDC50):c.199C>G (p.Leu67Val)	CCDC50 (L67V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 729274	NM_178335.3(CCDC50):c.207G>A (p.Ala69=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1326154	NM_178335.3(CCDC50):c.218T>C (p.Leu73Pro)	CCDC50 (L73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505396	NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys)	CCDC50 (R76C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1376607	NM_178335.3(CCDC50):c.227G>A (p.Arg76His)	CCDC50 (R76H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44 +1 more	GUncertain significance
Select item 48153	NM_178335.3(CCDC50):c.228C>T (p.Arg76=)	CCDC50	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1663700	NM_178335.3(CCDC50):c.239+16G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187207	NM_178335.3(CCDC50):c.239+301G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211406	NM_178335.3(CCDC50):c.240-285A>G	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216929	NM_178335.3(CCDC50):c.240-112_240-111del	CCDC50	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1265083	NM_178335.3(CCDC50):c.240-84G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1657580	NM_178335.3(CCDC50):c.240-17T>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921804	NM_178335.3(CCDC50):c.240-4T>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1434031	NM_178335.3(CCDC50):c.254G>T (p.Cys85Phe)	CCDC50 (C85F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030599	NM_178335.3(CCDC50):c.302G>A (p.Arg101Lys)	CCDC50 (R101K)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 2071579	NM_178335.3(CCDC50):c.321G>A (p.Lys107=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1238477	NM_178335.3(CCDC50):c.331-308G>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215573	NM_178335.3(CCDC50):c.331-270A>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220618	NM_178335.3(CCDC50):c.331-269C>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247130	NM_178335.3(CCDC50):c.331-231G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247819	NM_178335.3(CCDC50):c.331-162A>G	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251076	NM_178335.3(CCDC50):c.331-157G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732342	NM_178335.3(CCDC50):c.331-5del	CCDC50	Deletion (intron variant)	not provided	GLikely benign
Select item 666799	NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly)	CCDC50 (E118G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 48154	NM_178335.3(CCDC50):c.363A>T (p.Leu121Phe)	CCDC50 (L121F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1805828	NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)	CCDC50 (E124D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 1308915	NM_178335.3(CCDC50):c.394C>T (p.Pro132Ser)	CCDC50 (P132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434224	NM_178335.3(CCDC50):c.412C>T (p.Arg138Cys)	CCDC50 (R138C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686739	NM_178335.3(CCDC50):c.413G>C (p.Arg138Pro)	CCDC50 (R138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031280	NM_178335.3(CCDC50):c.419A>T (p.Tyr140Phe)	CCDC50 (Y140F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032560	NM_178335.3(CCDC50):c.448+5C>G	CCDC50	Single nucleotide variant (intron variant)	CCDC50-related disorder	GLikely benign
Select item 1208327	NM_178335.3(CCDC50):c.448+5C>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3