ClinVar for Gene (Select 105378552) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084894	NM_001290223.2(DOCK1):c.1552G>A (p.Val518Met)	DOCK1, LOC105378552 (V464M +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3084893	NM_001290223.2(DOCK1):c.1549A>G (p.Lys517Glu)	DOCK1, LOC105378552 (K475E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084892	NM_001290223.2(DOCK1):c.1349A>G (p.Tyr450Cys)	DOCK1, LOC105378552 (Y378C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084891	NM_001290223.2(DOCK1):c.1276A>G (p.Arg426Gly)	DOCK1, LOC105378552 (R141G +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 2640959	NM_001290223.2(DOCK1):c.1485G>A (p.Ala495=)	DOCK1, LOC105378552	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2599713	NM_001290223.2(DOCK1):c.1573G>A (p.Val525Ile)	DOCK1, LOC105378552 (V453I +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550670	NM_001290223.2(DOCK1):c.1249C>G (p.Arg417Gly)	LOC105378552, DOCK1 (R345G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492956	NM_001290223.2(DOCK1):c.1358T>C (p.Leu453Ser)	DOCK1, LOC105378552 (L168S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477406	NM_001290223.2(DOCK1):c.1531C>T (p.Arg511Cys)	DOCK1, LOC105378552 (R439C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469924	NM_001290223.2(DOCK1):c.1579C>T (p.Arg527Cys)	DOCK1, LOC105378552 (R473C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326529	NM_001290223.2(DOCK1):c.1453C>T (p.His485Tyr)	DOCK1, LOC105378552 (H413Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38