9789[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3312125	NM_003929.3(RAB29):c.545T>C (p.Met182Thr)	RAB29 (M158T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312123	NM_003929.3(RAB29):c.539A>T (p.Asp180Val)	RAB29 (D156V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526383	NM_003929.3(RAB29):c.527A>T (p.Asn176Ile)	RAB29 (N104I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150668	NM_003929.3(RAB29):c.454A>C (p.Thr152Pro)	RAB29 (T80P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150667	NM_003929.3(RAB29):c.439G>A (p.Gly147Ser)	RAB29 (G147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150666	NM_003929.3(RAB29):c.422G>A (p.Arg141Gln)	RAB29 (R141Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358355	NM_003929.3(RAB29):c.421C>G (p.Arg141Gly)	RAB29 (R69G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400277	NM_003929.3(RAB29):c.406C>G (p.Arg136Gly)	RAB29 (R136G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150665	NM_003929.3(RAB29):c.395G>T (p.Trp132Leu)	RAB29 (W132L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352762	NM_003929.3(RAB29):c.367T>C (p.Leu123=)	RAB29	Single nucleotide variant (synonymous variant)	RAB29-related disorder	GLikely benign
Select item 3037484	NM_003929.3(RAB29):c.310C>G (p.Gln104Glu)	RAB29 (Q104E +2 more)	Single nucleotide variant (missense variant)	RAB29-related disorder	GBenign
Select item 2520550	NM_003929.3(RAB29):c.224G>A (p.Arg75Gln)	RAB29 (R3Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537115	NM_003929.3(RAB29):c.193G>T (p.Ala65Ser)	RAB29 (A65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150664	NM_003929.3(RAB29):c.173G>A (p.Arg58Gln)	RAB29 (R58Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312124	NM_003929.3(RAB29):c.107A>T (p.Tyr36Phe)	RAB29 (Y36F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 32