ClinVar for Gene (Select 51390) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279001	NM_016108.4(AIG1):c.277T>G (p.Leu93Val)	AIG1 (L140V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3278995	NM_016108.4(AIG1):c.610A>G (p.Thr204Ala)	AIG1, LOC126859817 (N165S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278990	NM_016108.4(AIG1):c.460A>G (p.Ser154Gly)	AIG1 (S150G +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102774	NM_016108.4(AIG1):c.349T>C (p.Tyr117His)	AIG1 (Y164H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102768	NM_016108.4(AIG1):c.19C>A (p.Gln7Lys)	AIG1 (Q7K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2530464	NM_016108.4(AIG1):c.572T>C (p.Ile191Thr)	AIG1, LOC126859817 (I215T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518551	NM_016108.4(AIG1):c.353C>T (p.Pro118Leu)	AIG1 (P114L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2371155	NM_016108.4(AIG1):c.446A>G (p.His149Arg)	AIG1 (H115R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358327	NM_016108.4(AIG1):c.94C>T (p.His32Tyr)	AIG1 (H22Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331953	NM_016108.4(AIG1):c.443C>T (p.Ser148Leu)	AIG1 (S138L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316339	NM_016108.4(AIG1):c.535G>A (p.Val179Ile)	AIG1, LOC126859817 (C164Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297783	NM_016108.4(AIG1):c.7C>T (p.Leu3Phe)	AIG1 (L3F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245987	NM_016108.4(AIG1):c.510A>G (p.Ile170Met)	AIG1 (I136M +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808164	GRCh37/hg19 6q24.2(chr6:143645794-143860372)x3	ADAT2, AIG1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 832557	NC_000006.12:g.(?_143333282)_(143511634_?)dup	ADAT2, AIG1 +2 more	Duplication	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 394776	GRCh37/hg19 6q24.2(chr6:143204211-143689813)x1	AIG1, HIVEP2	Copy number loss	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28