ClinVar for Gene (Select 5866) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150764	NM_013401.4(RAB3IL1):c.991C>T (p.Arg331Trp)	RAB3IL1 (R305W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150763	NM_013401.4(RAB3IL1):c.854C>T (p.Thr285Met)	RAB3IL1 (T285M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150762	NM_013401.4(RAB3IL1):c.614C>G (p.Pro205Arg)	RAB3IL1 (P205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150761	NM_013401.4(RAB3IL1):c.584C>T (p.Thr195Ile)	RAB3IL1 (T195I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150759	NM_013401.4(RAB3IL1):c.431G>A (p.Arg144Gln)	RAB3IL1 (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150758	NM_013401.4(RAB3IL1):c.128C>T (p.Ser43Phe)	RAB3IL1 (S43F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150757	NM_013401.4(RAB3IL1):c.119T>C (p.Val40Ala)	RAB3IL1 (V87A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2588039	NM_013401.4(RAB3IL1):c.848C>T (p.Ser283Leu)	RAB3IL1 (S257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553931	NM_013401.4(RAB3IL1):c.935G>A (p.Arg312His)	RAB3IL1 (R286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541655	NM_013401.4(RAB3IL1):c.331C>G (p.Leu111Val)	RAB3IL1 (L158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539477	NM_013401.4(RAB3IL1):c.949C>T (p.Leu317Phe)	RAB3IL1 (L291F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532263	NM_013401.4(RAB3IL1):c.476C>T (p.Thr159Met)	RAB3IL1 (T159M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531868	NM_013401.4(RAB3IL1):c.1110G>A (p.Met370Ile)	RAB3IL1 (M344I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457401	NM_013401.4(RAB3IL1):c.254G>C (p.Arg85Thr)	RAB3IL1 (R132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2404232	NM_013401.4(RAB3IL1):c.604G>A (p.Ala202Thr)	RAB3IL1 (A202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401846	NM_013401.4(RAB3IL1):c.946C>T (p.Arg316Trp)	RAB3IL1 (R316W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378746	NM_013401.4(RAB3IL1):c.1136C>T (p.Pro379Leu)	RAB3IL1 (P379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359656	NM_013401.4(RAB3IL1):c.571C>T (p.Arg191Cys)	RAB3IL1 (R191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333930	NM_013401.4(RAB3IL1):c.774C>G (p.Phe258Leu)	RAB3IL1 (F232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300167	NM_013401.4(RAB3IL1):c.280G>T (p.Asp94Tyr)	RAB3IL1 (D141Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279320	NM_013401.4(RAB3IL1):c.401C>T (p.Ala134Val)	RAB3IL1 (A134V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262414	NM_013401.4(RAB3IL1):c.808G>A (p.Ala270Thr)	RAB3IL1 (A270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250962	NM_013401.4(RAB3IL1):c.460G>A (p.Val154Met)	RAB3IL1 (V154M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234160	NM_013401.4(RAB3IL1):c.604G>T (p.Ala202Ser)	RAB3IL1 (A202S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211473	NM_013401.4(RAB3IL1):c.167C>T (p.Ala56Val)	RAB3IL1 (A103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35