ClinVar for Gene (Select 105378360) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172896	NM_001114133.3(SYNPO2L):c.23T>A (p.Leu8Gln)	SYNPO2L, SYNPO2L-AS1 (L8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094310	NM_001144000.4(AGAP5):c.2021A>C (p.Asn674Thr)	AGAP5, SYNPO2L-AS1 (N674T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094289	NM_001144000.4(AGAP5):c.1979C>G (p.Ala660Gly)	AGAP5, SYNPO2L-AS1 (A660G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094273	NM_001144000.4(AGAP5):c.1693C>T (p.Arg565Trp)	AGAP5, SYNPO2L-AS1 (R565W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094268	NM_001144000.4(AGAP5):c.1652A>G (p.Gln551Arg)	AGAP5, SYNPO2L-AS1 (Q551R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094260	NM_001144000.4(AGAP5):c.1625G>C (p.Ser542Thr)	AGAP5, SYNPO2L-AS1 (S542T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094256	NM_001144000.4(AGAP5):c.1525C>G (p.Leu509Val)	AGAP5, SYNPO2L-AS1 (L509V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480404	NM_001114133.3(SYNPO2L):c.221A>G (p.Asp74Gly)	SYNPO2L, SYNPO2L-AS1 (D74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476736	NM_001114133.3(SYNPO2L):c.26T>C (p.Val9Ala)	SYNPO2L, SYNPO2L-AS1 (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472720	NM_001144000.4(AGAP5):c.1523G>C (p.Ser508Thr)	AGAP5, SYNPO2L-AS1 (S508T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2385787	NM_001144000.4(AGAP5):c.1786G>A (p.Ala596Thr)	AGAP5, SYNPO2L-AS1 (A596T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383678	NM_001144000.4(AGAP5):c.2003C>T (p.Ser668Phe)	AGAP5, SYNPO2L-AS1 (S668F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374183	NM_001114133.3(SYNPO2L):c.77A>G (p.Glu26Gly)	SYNPO2L, SYNPO2L-AS1 (E26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364171	NM_001144000.4(AGAP5):c.1994G>A (p.Arg665Gln)	AGAP5, SYNPO2L-AS1 (R665Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352743	NM_001144000.4(AGAP5):c.1985C>A (p.Thr662Asn)	AGAP5, SYNPO2L-AS1 (T662N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350965	NM_001144000.4(AGAP5):c.1703G>A (p.Arg568His)	AGAP5, SYNPO2L-AS1 (R568H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350448	NM_001144000.4(AGAP5):c.1990G>A (p.Ala664Thr)	AGAP5, SYNPO2L-AS1 (A664T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305926	NM_001144000.4(AGAP5):c.1869C>G (p.Asp623Glu)	AGAP5, SYNPO2L-AS1 (D623E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301226	NM_001144000.4(AGAP5):c.1345T>C (p.Cys449Arg)	AGAP5, SYNPO2L-AS1 (C449R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2253203	NM_001144000.4(AGAP5):c.1337T>C (p.Leu446Pro)	AGAP5, SYNPO2L-AS1 (L446P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220850	NM_001114133.3(SYNPO2L):c.175G>T (p.Val59Phe)	SYNPO2L, SYNPO2L-AS1 (V59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204005	NM_001144000.4(AGAP5):c.1702C>T (p.Arg568Cys)	AGAP5, SYNPO2L-AS1 (R568C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28