40049[HGNC] - ClinVar

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Items: 71

	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 150077	GRCh38/hg38 3q28(chr3:190590661-191083933)x1	GMNC, IL1RAP +2 more	Copy number loss	See cases	GLikely benign
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 2334523	NM_001146686.3(GMNC):c.973T>C (p.Trp325Arg)	GMNC (W325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541909	NM_001146686.3(GMNC):c.890C>T (p.Thr297Ile)	GMNC (T297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318170	NM_001146686.3(GMNC):c.792C>A (p.His264Gln)	GMNC (H264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327545	NM_001146686.3(GMNC):c.740G>T (p.Gly247Val)	GMNC (G247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281715	NM_001146686.3(GMNC):c.728T>C (p.Ile243Thr)	GMNC (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302489	NM_001146686.3(GMNC):c.725C>T (p.Pro242Leu)	GMNC (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609023	NM_001146686.3(GMNC):c.459A>C (p.Gln153His)	GMNC (Q153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370273	NM_001146686.3(GMNC):c.427T>C (p.Phe143Leu)	GMNC (F143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281714	NM_001146686.3(GMNC):c.383A>C (p.Lys128Thr)	GMNC (K128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100506	NM_001146686.3(GMNC):c.356T>C (p.Leu119Ser)	GMNC (L119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271199	NM_001146686.3(GMNC):c.343C>G (p.Leu115Val)	GMNC (L115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281717	NM_001146686.3(GMNC):c.305C>T (p.Ala102Val)	GMNC (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518784	NM_001146686.3(GMNC):c.296A>T (p.Glu99Val)	GMNC (E99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588606	NM_001146686.3(GMNC):c.295G>A (p.Glu99Lys)	GMNC (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347103	NM_001146686.3(GMNC):c.284T>C (p.Val95Ala)	GMNC (V95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100505	NM_001146686.3(GMNC):c.260A>G (p.Asn87Ser)	GMNC (N87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478363	NM_001146686.3(GMNC):c.256A>G (p.Arg86Gly)	GMNC (R86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281718	NM_001146686.3(GMNC):c.205C>T (p.Leu69Phe)	GMNC (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100504	NM_001146686.3(GMNC):c.203C>T (p.Pro68Leu)	GMNC (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475637	NM_001146686.3(GMNC):c.190G>A (p.Asp64Asn)	GMNC (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281716	NM_001146686.3(GMNC):c.142G>A (p.Asp48Asn)	GMNC (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100509	NM_001146686.3(GMNC):c.82G>A (p.Glu28Lys)	GMNC (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281720	NM_001146686.3(GMNC):c.77C>T (p.Thr26Met)	GMNC (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100508	NM_001146686.3(GMNC):c.62C>A (p.Pro21Gln)	GMNC (P21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100507	NM_001146686.3(GMNC):c.61C>T (p.Pro21Ser)	GMNC (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408329	NM_001146686.3(GMNC):c.59G>A (p.Cys20Tyr)	GMNC (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223093	NM_001146686.3(GMNC):c.44G>A (p.Gly15Asp)	GMNC (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281719	NM_001146686.3(GMNC):c.8C>T (p.Thr3Ile)	GMNC (T3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247003	NC_000003.11:g.(?_189357602)_(192126012_?)del	CCDC50, CLDN1 +10 more	Deletion	not provided	GPathogenic
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 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 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 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 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
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 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 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

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Items: 71