6041[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 152788	GRCh38/hg38 19p13.12(chr19:15112168-15191333)x1	ILVBL, ILVBL-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 3285945	NM_006844.5(ILVBL):c.1894G>C (p.Val632Leu)	ILVBL (V632L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612803	NM_006844.5(ILVBL):c.1877G>A (p.Arg626His)	ILVBL (R626H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476227	NM_006844.5(ILVBL):c.1846G>A (p.Val616Ile)	ILVBL (V616I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280250	NM_006844.5(ILVBL):c.1843G>C (p.Val615Leu)	ILVBL (V615L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109511	NM_006844.5(ILVBL):c.1826G>A (p.Arg609Gln)	ILVBL (R609Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373444	NM_006844.5(ILVBL):c.1771C>T (p.Arg591Trp)	ILVBL (R591W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109510	NM_006844.5(ILVBL):c.1753C>T (p.Arg585Trp)	ILVBL (R585W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517373	NM_006844.5(ILVBL):c.1667G>A (p.Arg556Gln)	ILVBL (R556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554200	NM_006844.5(ILVBL):c.1642G>A (p.Asp548Asn)	ILVBL (D548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277958	NM_006844.5(ILVBL):c.1633G>A (p.Val545Ile)	ILVBL (V545I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109509	NM_006844.5(ILVBL):c.1557T>A (p.Phe519Leu)	ILVBL (F519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491454	NM_006844.5(ILVBL):c.1538C>A (p.Ala513Asp)	ILVBL (A513D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109508	NM_006844.5(ILVBL):c.1528C>T (p.Arg510Trp)	ILVBL (R510W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317194	NM_006844.5(ILVBL):c.1478T>C (p.Phe493Ser)	ILVBL (F493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389964	NM_006844.5(ILVBL):c.1324G>A (p.Ala442Thr)	ILVBL (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649426	NM_006844.5(ILVBL):c.1314G>A (p.Ala438=)	ILVBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533153	NM_006844.5(ILVBL):c.1282C>A (p.Gln428Lys)	ILVBL (Q428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285942	NM_006844.5(ILVBL):c.1280G>C (p.Arg427Pro)	ILVBL (R427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109507	NM_006844.5(ILVBL):c.1280G>A (p.Arg427Gln)	ILVBL (R427Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285940	NM_006844.5(ILVBL):c.1276G>A (p.Asp426Asn)	ILVBL (D426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255704	NM_006844.5(ILVBL):c.1252T>G (p.Trp418Gly)	ILVBL (W418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285946	NM_006844.5(ILVBL):c.1247C>A (p.Pro416Gln)	ILVBL (P416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522841	NM_006844.5(ILVBL):c.1220A>T (p.Glu407Val)	ILVBL (E407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213432	NM_006844.5(ILVBL):c.1204G>A (p.Val402Met)	ILVBL (V402M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366626	NM_006844.5(ILVBL):c.1174G>A (p.Glu392Lys)	ILVBL (E392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109506	NM_006844.5(ILVBL):c.1136A>C (p.Glu379Ala)	ILVBL (E379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493710	NM_006844.5(ILVBL):c.1070G>A (p.Arg357His)	ILVBL (R357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225152	NM_006844.5(ILVBL):c.1031C>T (p.Ala344Val)	ILVBL (A344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396008	NM_006844.5(ILVBL):c.1010G>A (p.Arg337His)	ILVBL (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109517	NM_006844.5(ILVBL):c.980G>A (p.Arg327His)	ILVBL (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605962	NM_006844.5(ILVBL):c.940C>T (p.Pro314Ser)	ILVBL (P314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109516	NM_006844.5(ILVBL):c.922G>A (p.Val308Met)	ILVBL (V308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285943	NM_006844.5(ILVBL):c.920C>T (p.Ala307Val)	ILVBL (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209960	NM_006844.5(ILVBL):c.905A>G (p.Asp302Gly)	ILVBL (D302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786350	NM_006844.5(ILVBL):c.903C>T (p.Ala301=)	ILVBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109515	NM_006844.5(ILVBL):c.845G>A (p.Arg282Gln)	ILVBL (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568520	NM_006844.5(ILVBL):c.844C>T (p.Arg282Trp)	ILVBL (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590600	NM_006844.5(ILVBL):c.823C>T (p.Arg275Cys)	ILVBL (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276771	NM_006844.5(ILVBL):c.772G>A (p.Glu258Lys)	ILVBL (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787485	NM_006844.5(ILVBL):c.771C>G (p.Pro257=)	ILVBL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2298628	NM_006844.5(ILVBL):c.740A>G (p.Asn247Ser)	ILVBL (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231992	NM_006844.5(ILVBL):c.730T>G (p.Tyr244Asp)	ILVBL (Y244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790754	NM_006844.5(ILVBL):c.685C>T (p.Pro229Ser)	ILVBL (P229S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2605007	NM_006844.5(ILVBL):c.634G>A (p.Val212Met)	ILVBL (V212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377844	NM_006844.5(ILVBL):c.608C>T (p.Pro203Leu)	ILVBL (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285939	NM_006844.5(ILVBL):c.593C>T (p.Ser198Leu)	ILVBL (S198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401590	NM_006844.5(ILVBL):c.586G>A (p.Ala196Thr)	ILVBL (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649427	NM_006844.5(ILVBL):c.573C>T (p.Ala191=)	ILVBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109513	NM_006844.5(ILVBL):c.554T>A (p.Ile185Asn)	ILVBL (I185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513599	NM_006844.5(ILVBL):c.547C>T (p.Arg183Trp)	ILVBL (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363867	NM_006844.5(ILVBL):c.508C>T (p.Arg170Trp)	ILVBL (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780548	NM_006844.5(ILVBL):c.427A>G (p.Ile143Val)	ILVBL (I143V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2288522	NM_006844.5(ILVBL):c.376C>T (p.Leu126Phe)	ILVBL (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569641	NM_006844.5(ILVBL):c.349G>A (p.Val117Met)	ILVBL (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285941	NM_006844.5(ILVBL):c.286C>T (p.Arg96Cys)	ILVBL (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592213	NM_006844.5(ILVBL):c.271C>T (p.Arg91Cys)	ILVBL (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791510	NM_006844.5(ILVBL):c.179C>T (p.Ala60Val)	ILVBL (A60V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3285948	NM_006844.5(ILVBL):c.119A>G (p.Tyr40Cys)	ILVBL, ILVBL-AS1 (Y40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109514	NM_006844.5(ILVBL):c.71C>T (p.Thr24Met)	ILVBL, ILVBL-AS1 (T24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285947	NM_006844.5(ILVBL):c.28G>A (p.Ala10Thr)	ILVBL, ILVBL-AS1 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315297	NM_006844.5(ILVBL):c.5A>T (p.Glu2Val)	ILVBL, ILVBL-AS1 (E2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526657	GRCh37/hg19 19p13.12(chr19:15184922-15582812)	BRD4, EPHX3 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	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
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 79