ClinVar for Gene (Select 55610) - ClinVar

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

Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332286	NM_017667.4(VPS50):c.429G>C (p.Leu143Phe)	VPS50 (L113F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332285	NM_017667.4(VPS50):c.1478G>A (p.Arg493His)	VPS50 (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239244	NM_017667.4(VPS50):c.2098G>A (p.Glu700Lys)	VPS50 (E670K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235924	NM_017667.4(VPS50):c.1723C>T (p.Gln575Ter)	VPS50 (Q545* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	GLikely pathogenic
Select item 3188995	NM_017667.4(VPS50):c.88C>T (p.Arg30Trp)	VPS50 (R30W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3188994	NM_017667.4(VPS50):c.779A>G (p.Tyr260Cys)	VPS50 (Y260C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188992	NM_017667.4(VPS50):c.2690T>C (p.Ile897Thr)	VPS50 (I897T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188991	NM_017667.4(VPS50):c.2547A>C (p.Glu849Asp)	VPS50 (E849D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188990	NM_017667.4(VPS50):c.2165C>T (p.Thr722Met)	VPS50 (T692M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188989	NM_017667.4(VPS50):c.1843A>G (p.Ile615Val)	VPS50 (I585V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188988	NM_017667.4(VPS50):c.1622C>T (p.Ser541Phe)	VPS50 (S541F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188987	NM_017667.4(VPS50):c.1541T>C (p.Phe514Ser)	VPS50 (F514S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067277	NM_017667.4(VPS50):c.1191C>G (p.Thr397=)	VPS50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064493	NM_017667.4(VPS50):c.2656A>G (p.Met886Val)	VPS50 (M856V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	GUncertain significance
Select item 3064458	NM_017667.4(VPS50):c.1705C>T (p.Arg569Ter)	VPS50 (R539* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	GLikely pathogenic
Select item 2657678	NM_017667.4(VPS50):c.2730T>C (p.Tyr910=)	VPS50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618224	NM_017667.4(VPS50):c.1916T>A (p.Met639Lys)	VPS50 (M639K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557311	NM_017667.4(VPS50):c.112A>G (p.Arg38Gly)	VPS50 (R38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520988	NM_017667.4(VPS50):c.322A>G (p.Ile108Val)	VPS50 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506030	NM_017667.4(VPS50):c.1361+1G>T	VPS50	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2494140	NM_017667.4(VPS50):c.649A>C (p.Ser217Arg)	VPS50 (S187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491834	NM_017667.4(VPS50):c.947T>G (p.Val316Gly)	VPS50 (V286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476775	NM_017667.4(VPS50):c.1102G>A (p.Glu368Lys)	VPS50 (E338K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461262	NM_017667.4(VPS50):c.1967G>A (p.Arg656Gln)	VPS50 (R626Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406978	NM_017667.4(VPS50):c.458C>A (p.Ala153Asp)	VPS50 (A153D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361907	NM_017667.4(VPS50):c.1067C>T (p.Ser356Leu)	VPS50 (S356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357569	NM_017667.4(VPS50):c.1216A>G (p.Ile406Val)	VPS50 (I406V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345448	NM_017667.4(VPS50):c.2030A>G (p.Asn677Ser)	VPS50 (N677S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333138	NM_017667.4(VPS50):c.2693C>T (p.Pro898Leu)	VPS50 (P868L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328346	NM_017667.4(VPS50):c.887G>A (p.Cys296Tyr)	VPS50 (C296Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316795	NM_017667.4(VPS50):c.1670A>G (p.Tyr557Cys)	VPS50 (Y527C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297802	NM_017667.4(VPS50):c.89G>A (p.Arg30Gln)	VPS50 (R30Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286904	NM_017667.4(VPS50):c.1295G>C (p.Ser432Thr)	VPS50 (S402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278223	NM_017667.4(VPS50):c.1754C>A (p.Ser585Tyr)	VPS50 (S555Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269585	NM_017667.4(VPS50):c.1691C>T (p.Pro564Leu)	VPS50 (P534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269193	NM_017667.4(VPS50):c.584A>G (p.Asp195Gly)	VPS50 (D165G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260643	NM_017667.4(VPS50):c.2680A>G (p.Ile894Val)	VPS50 (I894V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244499	NM_017667.4(VPS50):c.490C>T (p.Arg164Cys)	VPS50 (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527377	GRCh37/hg19 7q21.2-21.3(chr7:92044792-93320149)	CALCR, CDK6 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1331701	NM_017667.4(VPS50):c.1823_1825del (p.Thr608del)	VPS50 (T578del +1 more)	Deletion (inframe_deletion)	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	GPathogenic
Select item 1331700	NM_017667.4(VPS50):c.1978-1G>T	VPS50	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 790046	NM_017667.4(VPS50):c.2594A>G (p.Asn865Ser)	VPS50 (N835S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782269	NM_017667.4(VPS50):c.2688C>G (p.Pro896=)	VPS50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221463	GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3	HEPACAM2, VPS50	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	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

Links from Gene

Items: 60