14955[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
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	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 375477	NM_018657.5(MYNN):c.18C>T (p.His6=)	MYNN	Single nucleotide variant (synonymous variant +1 more)	Chronic osteomyelitis	Gassociation
Select item 2305940	NM_018657.5(MYNN):c.86T>C (p.Val29Ala)	MYNN (V29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160331	NM_018657.5(MYNN):c.149G>A (p.Gly50Asp)	MYNN (G50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485727	NM_018657.5(MYNN):c.257A>C (p.Asn86Thr)	MYNN (N86T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160345	NM_018657.5(MYNN):c.550A>G (p.Lys184Glu)	MYNN (K184E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160351	NM_018657.5(MYNN):c.551A>C (p.Lys184Thr)	MYNN (K184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160353	NM_018657.5(MYNN):c.578A>C (p.Gln193Pro)	MYNN (Q193P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160356	NM_018657.5(MYNN):c.676G>T (p.Val226Phe)	MYNN (V226F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160362	NM_018657.5(MYNN):c.749T>C (p.Ile250Thr)	MYNN (I250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160365	NM_018657.5(MYNN):c.758C>G (p.Thr253Ser)	MYNN (T253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469472	NM_018657.5(MYNN):c.785A>T (p.Lys262Ile)	MYNN (K262I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399334	NM_018657.5(MYNN):c.838G>A (p.Val280Ile)	MYNN (V280I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160324	NM_018657.5(MYNN):c.1019C>G (p.Thr340Ser)	MYNN (T340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219732	NM_018657.5(MYNN):c.1192A>G (p.Thr398Ala)	MYNN (T398A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614793	NM_018657.5(MYNN):c.1504G>A (p.Glu502Lys)	MYNN (E502K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160339	NM_018657.5(MYNN):c.1622A>G (p.Gln541Arg)	MYNN (Q541R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1808209	GRCh37/hg19 3q26.2(chr3:168718767-169662001)x1	ACTRT3, LRRC31 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 40