PELO[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 2598909	NM_181501.2(ITGA1):c.16C>A (p.Arg6Ser)	ITGA1, PELO +1 more (R6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302627	NM_181501.2(ITGA1):c.49T>C (p.Trp17Arg)	ITGA1, PELO +1 more (W17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462942	NM_015946.5(PELO):c.38C>T (p.Ala13Val)	ITGA1, PELO +1 more (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211383	NM_015946.5(PELO):c.176A>G (p.Asn59Ser)	ITGA1, PELO +1 more (N59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541445	NM_015946.5(PELO):c.182T>C (p.Val61Ala)	ITGA1, PELO +1 more (V61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305759	NM_015946.5(PELO):c.278A>T (p.Tyr93Phe)	ITGA1, PELO +1 more (Y93F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307643	NM_015946.5(PELO):c.418G>C (p.Val140Leu)	ITGA1, PELO +1 more (V140L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3305761	NM_015946.5(PELO):c.479G>C (p.Arg160Pro)	ITGA1, PELO (R160P)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2305906	NM_015946.5(PELO):c.508A>C (p.Lys170Gln)	ITGA1, PELO (K170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211384	NM_015946.5(PELO):c.521A>C (p.Asn174Thr)	ITGA1, PELO (N174T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483996	NM_015946.5(PELO):c.575C>A (p.Ala192Asp)	ITGA1, PELO (A192D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341901	NM_015946.5(PELO):c.577A>G (p.Ile193Val)	ITGA1, PELO (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477780	NM_015946.5(PELO):c.794G>T (p.Arg265Leu)	ITGA1, PELO (R265L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310302	NM_015946.5(PELO):c.828A>T (p.Lys276Asn)	ITGA1, PELO (K276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211386	NM_015946.5(PELO):c.843C>G (p.Phe281Leu)	ITGA1, PELO (F281L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309362	NM_015946.5(PELO):c.850A>G (p.Met284Val)	ITGA1, PELO (M284V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536334	NM_015946.5(PELO):c.912A>C (p.Glu304Asp)	ITGA1, PELO (E304D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461870	NM_015946.5(PELO):c.986A>G (p.Tyr329Cys)	ITGA1, PELO (Y329C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295586	NM_015946.5(PELO):c.997G>C (p.Val333Leu)	ITGA1, PELO (V333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211381	NM_015946.5(PELO):c.1027G>C (p.Val343Leu)	ITGA1, PELO (V343L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303355	NM_015946.5(PELO):c.1081G>A (p.Gly361Arg)	ITGA1, PELO (G361R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305762	NM_015946.5(PELO):c.1094T>G (p.Ile365Ser)	ITGA1, PELO (I365S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305760	NM_015946.5(PELO):c.1120T>C (p.Ser374Pro)	ITGA1, PELO (S374P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305763	NM_015946.5(PELO):c.1132G>A (p.Gly378Ser)	ITGA1, PELO (G378S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544178	NM_015946.5(PELO):c.1153G>C (p.Asp385His)	ITGA1, PELO (D385H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062843	GRCh37/hg19 5q11.1-11.2(chr5:50270297-52235860)x1	ISL1, ITGA1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 979674	GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1	NDUFS4, MOCS2 +8 more	Copy number loss	not provided	GPathogenic
Select item 686568	GRCh37/hg19 5q11.2(chr5:52053923-52680028)x3	ITGA1, ITGA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 443292	GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1	ARL15, FST +5 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 39