ClinVar for Gene (Select 113177) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287098	NM_001039846.2(IZUMO4):c.632G>A (p.Cys211Tyr)	IZUMO4 (C187Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287097	NM_001039846.2(IZUMO4):c.212A>T (p.Lys71Met)	IZUMO4 (K71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287096	NM_001039846.2(IZUMO4):c.482C>T (p.Ala161Val)	IZUMO4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112075	NM_001039846.2(IZUMO4):c.689A>C (p.Lys230Thr)	IZUMO4 (K212T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112074	NM_001039846.2(IZUMO4):c.682T>C (p.Cys228Arg)	IZUMO4 (C210R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112073	NM_001039846.2(IZUMO4):c.593G>A (p.Arg198Lys)	IZUMO4 (R198K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112072	NM_001039846.2(IZUMO4):c.476C>T (p.Ser159Phe)	IZUMO4 (S159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112071	NM_001039846.2(IZUMO4):c.374G>A (p.Arg125His)	IZUMO4 (R125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	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 2622742	NM_001039846.2(IZUMO4):c.52T>C (p.Cys18Arg)	IZUMO4 (C18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551668	NM_001039846.2(IZUMO4):c.48C>A (p.His16Gln)	IZUMO4 (H16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546833	NM_001039846.2(IZUMO4):c.479C>T (p.Ser160Leu)	IZUMO4 (S160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477980	NM_001039846.2(IZUMO4):c.242C>G (p.Ala81Gly)	IZUMO4 (A81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2411827	NM_001039846.2(IZUMO4):c.332G>A (p.Arg111Gln)	IZUMO4 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310175	NM_001039846.2(IZUMO4):c.647A>G (p.His216Arg)	IZUMO4 (H198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277370	NM_001039846.2(IZUMO4):c.172G>T (p.Asp58Tyr)	IZUMO4 (D58Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221563	NM_001039846.2(IZUMO4):c.602C>T (p.Pro201Leu)	IZUMO4 (P201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219254	NM_001039846.2(IZUMO4):c.26G>T (p.Cys9Phe)	IZUMO4 (C9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 689194	GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3	ABHD17A, ADAT3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
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
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	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 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48