21607[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
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

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Items: 28