GLG1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 125

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 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	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +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	LOC130059185, LOC130059186 +869 more	Copy number gain	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 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 150420	GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1	CLEC18B, FA2H +23 more	Copy number loss	See cases	GUncertain significance
Select item 2587940	NM_001145667.2(GLG1):c.*1056C>A	GLG1 (T1175K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262558	NM_001145667.2(GLG1):c.*1041A>C	GLG1 (Q1170P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 750586	NM_001145667.2(GLG1):c.*1040C>T	GLG1 (Q1170* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2646855	NM_001145667.2(GLG1):c.3507C>T (p.Thr1169=)	GLG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2247060	NM_001145667.2(GLG1):c.3435C>G (p.Asn1145Lys)	GLG1 (N1134K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459012	NM_001145667.2(GLG1):c.3331C>T (p.Arg1111Cys)	GLG1 (R1100C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204085	NM_001145667.2(GLG1):c.3263G>A (p.Arg1088His)	GLG1 (R1088H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316386	NM_001145667.2(GLG1):c.3238G>A (p.Ala1080Thr)	GLG1 (A1069T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549119	NM_001145667.2(GLG1):c.3135G>T (p.Leu1045Phe)	GLG1 (L1034F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539463	NM_001145667.2(GLG1):c.3043A>G (p.Ser1015Gly)	GLG1 (S1015G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208704	NM_001145667.2(GLG1):c.2966G>A (p.Arg989Gln)	GLG1, LOC126862398 (R989Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3281546	NM_001145667.2(GLG1):c.2902A>G (p.Ile968Val)	GLG1, LOC126862398 (I968V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287237	NM_001145667.2(GLG1):c.2889A>C (p.Leu963Phe)	GLG1, LOC126862398 (L963F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286640	NM_001145667.2(GLG1):c.2840C>T (p.Pro947Leu)	GLG1, LOC126862398 (P936L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594087	NM_001145667.2(GLG1):c.2811G>A (p.Met937Ile)	GLG1, LOC126862398 (M937I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610819	NM_001145667.2(GLG1):c.2775G>C (p.Gln925His)	GLG1 (Q925H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610818	NM_001145667.2(GLG1):c.2774A>T (p.Gln925Leu)	GLG1 (Q925L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100149	NM_001145667.2(GLG1):c.2761A>G (p.Ile921Val)	GLG1 (I910V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604613	NM_001145667.2(GLG1):c.2705A>G (p.Gln902Arg)	GLG1 (Q891R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204879	NM_001145667.2(GLG1):c.2572C>G (p.Arg858Gly)	GLG1 (R847G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512382	NM_001145667.2(GLG1):c.2417G>A (p.Arg806His)	GLG1 (R806H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281544	NM_001145667.2(GLG1):c.2357A>G (p.Asn786Ser)	GLG1 (N775S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373973	NM_001145667.2(GLG1):c.2345C>T (p.Thr782Met)	GLG1 (T771M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100148	NM_001145667.2(GLG1):c.2265T>A (p.Phe755Leu)	GLG1 (F744L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528052	NM_001145667.2(GLG1):c.2249G>A (p.Arg750Gln)	GLG1 (R739Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281551	NM_001145667.2(GLG1):c.2185G>A (p.Asp729Asn)	GLG1 (D718N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546742	NM_001145667.2(GLG1):c.2184G>C (p.Lys728Asn)	GLG1 (K717N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281548	NM_001145667.2(GLG1):c.2156A>G (p.Glu719Gly)	GLG1 (E719G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100147	NM_001145667.2(GLG1):c.2119G>A (p.Val707Met)	GLG1 (V696M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486164	NM_001145667.2(GLG1):c.2002G>C (p.Val668Leu)	GLG1 (V657L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284184	NM_001145667.2(GLG1):c.1900G>C (p.Ala634Pro)	GLG1 (A634P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100146	NM_001145667.2(GLG1):c.1838A>T (p.Glu613Val)	GLG1 (E602V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100145	NM_001145667.2(GLG1):c.1795C>T (p.His599Tyr)	GLG1 (H599Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337989	NM_001145667.2(GLG1):c.1755A>C (p.Glu585Asp)	GLG1 (E574D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538419	NM_001145667.2(GLG1):c.1736G>T (p.Gly579Val)	GLG1 (G568V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281549	NM_001145667.2(GLG1):c.1730C>A (p.Thr577Asn)	GLG1 (T566N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479202	NM_001145667.2(GLG1):c.1697A>C (p.Lys566Thr)	GLG1 (K555T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246004	NM_001145667.2(GLG1):c.1693C>T (p.Arg565Cys)	GLG1 (R554C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266681	NM_001145667.2(GLG1):c.1633C>T (p.Arg545Cys)	GLG1 (R534C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100144	NM_001145667.2(GLG1):c.1630C>T (p.His544Tyr)	GLG1 (H533Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281550	NM_001145667.2(GLG1):c.1493G>A (p.Arg498His)	GLG1 (R487H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469605	NM_001145667.2(GLG1):c.1481G>C (p.Gly494Ala)	GLG1 (G483A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604181	NM_001145667.2(GLG1):c.1367A>G (p.His456Arg)	GLG1 (H456R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535335	NM_001145667.2(GLG1):c.1350C>G (p.His450Gln)	GLG1 (H439Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370958	NM_001145667.2(GLG1):c.1329C>A (p.Ser443Arg)	GLG1 (S432R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611865	NM_001145667.2(GLG1):c.1328G>A (p.Ser443Asn)	GLG1 (S443N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566043	NM_001145667.2(GLG1):c.1303T>G (p.Ser435Ala)	GLG1 (S424A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312807	NM_001145667.2(GLG1):c.1303T>C (p.Ser435Pro)	GLG1 (S424P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281543	NM_001145667.2(GLG1):c.1055G>A (p.Arg352Gln)	GLG1 (R341Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570402	NM_001145667.2(GLG1):c.980C>T (p.Thr327Ile)	GLG1 (T316I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589959	NM_001145667.2(GLG1):c.827A>C (p.Lys276Thr)	GLG1 (K265T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352516	NM_001145667.2(GLG1):c.818G>T (p.Gly273Val)	GLG1 (G273V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 509618	NM_001145667.2(GLG1):c.774+5C>G	GLG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1226456	NM_001145667.2(GLG1):c.612G>A (p.Leu204=)	GLG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3100152	NM_001145667.2(GLG1):c.503C>T (p.Thr168Ile)	GLG1 (T157I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771018	NM_001145667.2(GLG1):c.439-7C>T	GLG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386772	NM_001145667.2(GLG1):c.416A>T (p.Glu139Val)	GLG1 (E139V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523196	NM_001145667.2(GLG1):c.383A>C (p.Lys128Thr)	GLG1, LOC130059387 (K128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281547	NM_001145667.2(GLG1):c.350C>T (p.Ser117Phe)	GLG1, LOC130059387 (S117F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240502	NM_001145667.2(GLG1):c.334C>G (p.Leu112Val)	GLG1, LOC130059387 (L112V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602990	NM_001145667.2(GLG1):c.307G>A (p.Gly103Arg)	GLG1, LOC130059387 (G103R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308274	NM_001145667.2(GLG1):c.293C>T (p.Pro98Leu)	GLG1, LOC130059387 (P98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279983	NM_001145667.2(GLG1):c.226C>A (p.Gln76Lys)	GLG1 (Q76K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281545	NM_001145667.2(GLG1):c.166G>C (p.Gly56Arg)	GLG1 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100143	NM_001145667.2(GLG1):c.135C>G (p.Asn45Lys)	GLG1 (N45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284931	NM_001145667.2(GLG1):c.76G>A (p.Gly26Arg)	GLG1 (G26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552937	NM_001145667.2(GLG1):c.43G>T (p.Ala15Ser)	GLG1 (A15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273433	NM_001145667.2(GLG1):c.41C>T (p.Ser14Leu)	GLG1 (S14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357091	NM_001145667.2(GLG1):c.28A>T (p.Met10Leu)	GLG1 (M10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509887	NM_001145667.2(GLG1):c.22C>T (p.Arg8Trp)	GLG1 (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321690	NM_001145667.2(GLG1):c.22C>G (p.Arg8Gly)	GLG1 (R8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619649	NM_001145667.2(GLG1):c.10T>G (p.Cys4Gly)	GLG1 (C4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409924	NM_001145667.2(GLG1):c.5C>T (p.Ala2Val)	GLG1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243658	NC_000016.9:g.(?_74485954)_(74808653_?)dup	FA2H, GLG1 +2 more	Duplication	not provided	GUncertain significance
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2426448	NC_000016.9:g.(?_74505051)_(74695347_?)dup	GLG1, RFWD3	Duplication	not provided	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
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 1526517	GRCh37/hg19 16q23.1(chr16:74530491-74754442)	FA2H, GLG1 +2 more	Copy number loss	not specified	GUncertain significance

<< First< Prev

Page of 2