ClinVar for Gene (Select 55610) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	ASB4, BET1 +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	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56