6316[HGNC] - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2221733	NM_001366299.1(KHSRP):c.2108C>T (p.Thr703Met)	KHSRP (T703M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403815	NM_001366299.1(KHSRP):c.2059G>A (p.Ala687Thr)	KHSRP (A662T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649133	NM_001366299.1(KHSRP):c.2037G>A (p.Ala679=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410027	NM_001366299.1(KHSRP):c.1973T>C (p.Val658Ala)	KHSRP (V633A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246901	NM_001366299.1(KHSRP):c.1914A>G (p.Ala638=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114027	NM_001366299.1(KHSRP):c.1770C>T (p.Pro590=)	KHSRP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2337331	NM_001366299.1(KHSRP):c.1637G>C (p.Gly546Ala)	KHSRP (G546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774952	NM_001366299.1(KHSRP):c.1629A>C (p.Pro543=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781424	NM_001366299.1(KHSRP):c.1437T>C (p.Gly479=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3288048	NM_001366299.1(KHSRP):c.1192C>T (p.Pro398Ser)	KHSRP (P398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485639	NM_001366299.1(KHSRP):c.1139A>G (p.Glu380Gly)	KHSRP (E380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649134	NM_001366299.1(KHSRP):c.975C>T (p.Ile325=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311315	NM_001366299.1(KHSRP):c.853A>G (p.Ile285Val)	KHSRP (I285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775469	NM_001366299.1(KHSRP):c.564C>T (p.Pro188=)	KHSRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3288049	NM_001366299.1(KHSRP):c.514C>G (p.Gln172Glu)	KHSRP (Q172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369625	NM_001366299.1(KHSRP):c.418C>A (p.Pro140Thr)	KHSRP (P140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114028	NM_001366299.1(KHSRP):c.409A>G (p.Ile137Val)	KHSRP (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536635	NM_001366299.1(KHSRP):c.296G>A (p.Ser99Asn)	KHSRP (S99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114026	NM_001366299.1(KHSRP):c.158G>T (p.Gly53Val)	KHSRP (G53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592032	NM_001366299.1(KHSRP):c.85G>T (p.Gly29Cys)	KHSRP (G29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534214	NM_001366299.1(KHSRP):c.67G>T (p.Ala23Ser)	KHSRP (A23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114030	NM_001366299.1(KHSRP):c.58G>A (p.Gly20Ser)	KHSRP (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288047	NM_001366299.1(KHSRP):c.31C>A (p.Pro11Thr)	KHSRP (P11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1526654	GRCh37/hg19 19p13.3(chr19:6394117-6469834)	SLC25A41, CRB3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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: 37