PDF[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 887112	NM_032382.5(COG8):c.*568G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320303	NM_032382.5(COG8):c.*506C>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320304	NM_032382.5(COG8):c.*492C>T	PDF, COG8	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888376	NM_032382.5(COG8):c.*402A>G	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320305	NM_032382.5(COG8):c.*332A>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320306	NM_032382.5(COG8):c.*330G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320307	NM_032382.5(COG8):c.*196dup	PDF, COG8	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2556638	NM_022341.2(PDF):c.684G>A (p.Met228Ile)	COG8, PDF (M228I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 888377	NM_032382.5(COG8):c.*73G>A	COG8, PDF (W207*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 3210818	NM_022341.2(PDF):c.616G>C (p.Gly206Arg)	PDF, COG8 (G601R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235795	NM_022341.2(PDF):c.587A>T (p.Asn196Ile)	COG8, PDF (N591I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608355	NM_022341.2(PDF):c.583C>T (p.Pro195Ser)	COG8, PDF (P195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 422830	NM_032382.5(COG8):c.*27-8del	COG8, PDF	Deletion (intron variant)	not specified	GLikely benign
Select item 2646672	NM_022341.2(PDF):c.492C>T (p.Arg164=)	COG8, PDF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338754	NM_022341.2(PDF):c.440C>T (p.Pro147Leu)	COG8, PDF (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210816	NM_022341.2(PDF):c.407C>T (p.Pro136Leu)	COG8, PDF (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253685	NM_022341.2(PDF):c.344A>G (p.Gln115Arg)	COG8, PDF (Q115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1032952	NM_032382.5(COG8):c.*26+543C>T	PDF, COG8 (Q101*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2309923	NM_022341.2(PDF):c.287C>T (p.Thr96Met)	COG8, PDF (T96M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551578	NM_022341.2(PDF):c.265G>A (p.Gly89Arg)	COG8, PDF (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210814	NM_022341.2(PDF):c.227G>A (p.Arg76His)	COG8, PDF (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320437	NM_022341.2(PDF):c.217C>T (p.Pro73Ser)	COG8, PDF (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543780	NM_022341.2(PDF):c.184C>G (p.Pro62Ala)	COG8, PDF (P62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210813	NM_022341.2(PDF):c.143A>G (p.Tyr48Cys)	COG8, PDF (Y48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553258	NM_022341.2(PDF):c.122G>A (p.Gly41Asp)	COG8, PDF (G41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210817	NM_022341.2(PDF):c.53C>T (p.Pro18Leu)	PDF, COG8 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2272264	NM_022341.2(PDF):c.53C>G (p.Pro18Arg)	COG8, PDF (P18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401256	NM_022341.2(PDF):c.35C>G (p.Pro12Arg)	COG8, PDF (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236212	NM_032382.5(COG8):c.*26+273T>C	COG8, PDF (W11R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2253603	NM_022341.2(PDF):c.28C>G (p.Leu10Val)	COG8, PDF (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210815	NM_022341.2(PDF):c.22C>G (p.Leu8Val)	COG8, PDF (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288766	NM_022341.2(PDF):c.19G>T (p.Ala7Ser)	COG8, PDF (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297401	NM_022341.2(PDF):c.16G>A (p.Gly6Ser)	COG8, PDF (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 63