17648[HGNC] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 3216791	NM_001369919.2(POPDC2):c.*116C>T	POPDC2 (T361M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600038	NM_001369919.2(POPDC2):c.973C>T (p.Arg325Trp)	POPDC2 (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216803	NM_001369919.2(POPDC2):c.901C>G (p.Pro301Ala)	POPDC2 (P301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385494	NM_001369919.2(POPDC2):c.859G>A (p.Glu287Lys)	POPDC2 (E287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216801	NM_001369919.2(POPDC2):c.788G>A (p.Arg263His)	POPDC2 (R263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377291	NM_001369919.2(POPDC2):c.701C>T (p.Ser234Leu)	POPDC2 (S234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356901	NM_001369919.2(POPDC2):c.680G>A (p.Arg227Gln)	POPDC2 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281146	NM_001369919.2(POPDC2):c.660T>G (p.His220Gln)	POPDC2 (H220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216800	NM_001369919.2(POPDC2):c.659A>G (p.His220Arg)	POPDC2 (H220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357153	NM_001369919.2(POPDC2):c.659A>C (p.His220Pro)	POPDC2 (H220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216798	NM_001369919.2(POPDC2):c.611C>G (p.Thr204Ser)	POPDC2 (T204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205937	NM_001369919.2(POPDC2):c.598C>A (p.Gln200Lys)	POPDC2 (Q200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615527	NM_001369919.2(POPDC2):c.580T>C (p.Ser194Pro)	POPDC2 (S194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216797	NM_001369919.2(POPDC2):c.497G>T (p.Arg166Leu)	POPDC2 (R166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345973	NM_001369919.2(POPDC2):c.496C>T (p.Arg166Cys)	POPDC2 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216796	NM_001369919.2(POPDC2):c.466C>T (p.Arg156Cys)	POPDC2 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539522	NM_001369919.2(POPDC2):c.430C>A (p.Gln144Lys)	POPDC2 (Q144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308926	NM_001369919.2(POPDC2):c.424A>G (p.Thr142Ala)	POPDC2 (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349561	NM_001369919.2(POPDC2):c.405G>T (p.Glu135Asp)	POPDC2 (E135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216795	NM_001369919.2(POPDC2):c.373A>T (p.Thr125Ser)	POPDC2 (T125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216794	NM_001369919.2(POPDC2):c.341C>T (p.Thr114Met)	POPDC2 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395720	NM_001369919.2(POPDC2):c.335A>G (p.Tyr112Cys)	POPDC2 (Y112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308925	NM_001369919.2(POPDC2):c.299G>A (p.Arg100His)	POPDC2 (R100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295321	NM_001369919.2(POPDC2):c.271C>G (p.Gln91Glu)	POPDC2 (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216793	NM_001369919.2(POPDC2):c.262T>C (p.Cys88Arg)	POPDC2 (C88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352216	NM_001369919.2(POPDC2):c.197T>C (p.Leu66Pro)	POPDC2 (L66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216792	NM_001369919.2(POPDC2):c.178G>C (p.Gly60Arg)	POPDC2 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405470	NM_001369919.2(POPDC2):c.95T>C (p.Leu32Pro)	POPDC2 (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547190	NM_001369919.2(POPDC2):c.83C>A (p.Ala28Asp)	POPDC2 (A28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216802	NM_001369919.2(POPDC2):c.82G>A (p.Ala28Thr)	POPDC2 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373050	NM_001369919.2(POPDC2):c.44G>T (p.Gly15Val)	POPDC2 (G15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 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 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	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 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 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

Search results

Items: 51