ClinVar for Gene (Select 79982) - ClinVar

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

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084395	NM_001031723.4(DNAJB14):c.95A>G (p.Gln32Arg)	LOC129992861, DNAJB14 (Q32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084394	NM_001031723.4(DNAJB14):c.728G>A (p.Gly243Glu)	DNAJB14 (G176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685125	GRCh37/hg19 4q23(chr4:100682937-100845088)x1	DAPP1, DNAJB14 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685124	GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1	BANK1, CISD2 +12 more	Copy number loss	not provided	GPathogenic
Select item 2615451	NM_001031723.4(DNAJB14):c.128C>G (p.Ala43Gly)	DNAJB14, LOC129992861 (A43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542416	NM_001031723.4(DNAJB14):c.942A>C (p.Gln314His)	DNAJB14 (Q314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540081	NM_001031723.4(DNAJB14):c.211G>A (p.Asp71Asn)	DNAJB14 (D71N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536684	NM_001031723.4(DNAJB14):c.298G>A (p.Val100Ile)	DNAJB14 (V100I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521937	NM_001031723.4(DNAJB14):c.347C>T (p.Thr116Met)	DNAJB14 (T116M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489494	NM_001031723.4(DNAJB14):c.200C>T (p.Ser67Leu)	DNAJB14 (S67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474591	NM_001031723.4(DNAJB14):c.241A>G (p.Ser81Gly)	DNAJB14 (S81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472970	NM_001031723.4(DNAJB14):c.1064G>A (p.Arg355Gln)	DNAJB14 (R355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383854	NM_001031723.4(DNAJB14):c.1112G>A (p.Arg371Gln)	DNAJB14 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268323	NM_001031723.4(DNAJB14):c.475T>G (p.Leu159Val)	DNAJB14 (L159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217166	NM_001031723.4(DNAJB14):c.784G>C (p.Val262Leu)	DNAJB14 (V195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215432	NM_001031723.4(DNAJB14):c.191G>A (p.Arg64Gln)	DNAJB14 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31