30093[HGNC] - ClinVar - NCBI

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	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 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 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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 149552	GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3	CDH13, CDH13-AS2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 60063	GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3	CDH13, CDH13-AS2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 60064	GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3	CDH13, CDH13-AS2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 3207151	NM_182981.3(OSGIN1):c.31G>A (p.Ala11Thr)	OSGIN1 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782018	NM_182981.3(OSGIN1):c.37A>C (p.Ser13Arg)	OSGIN1 (S13R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2461310	NM_182981.3(OSGIN1):c.232G>A (p.Glu78Lys)	OSGIN1 (E78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270401	NM_182981.3(OSGIN1):c.299G>T (p.Gly100Val)	OSGIN1 (G100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207152	NM_182981.3(OSGIN1):c.334C>T (p.Arg112Trp)	OSGIN1 (R112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457240	NM_182981.3(OSGIN1):c.371G>A (p.Arg124Gln)	OSGIN1 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264001	NM_182981.3(OSGIN1):c.388G>T (p.Ala130Ser)	OSGIN1 (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400652	NM_182981.3(OSGIN1):c.403G>A (p.Glu135Lys)	OSGIN1 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479735	NM_182981.3(OSGIN1):c.494T>G (p.Leu165Arg)	OSGIN1 (L165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786296	NM_182981.3(OSGIN1):c.516C>T (p.Ala172=)	OSGIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344093	NM_182981.3(OSGIN1):c.523A>G (p.Ile175Val)	OSGIN1 (I175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729692	NM_182981.3(OSGIN1):c.540G>A (p.Arg180=)	OSGIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3303603	NM_182981.3(OSGIN1):c.550G>A (p.Val184Ile)	OSGIN1 (V184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274025	NM_182981.3(OSGIN1):c.583G>A (p.Gly195Ser)	OSGIN1 (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494404	NM_182981.3(OSGIN1):c.676C>G (p.Leu226Val)	NECAB2, OSGIN1 (L226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207153	NM_182981.3(OSGIN1):c.722A>G (p.Asn241Ser)	NECAB2, OSGIN1 (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264085	NM_182981.3(OSGIN1):c.743C>A (p.Thr248Lys)	NECAB2, OSGIN1 (T248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204046	NM_182981.3(OSGIN1):c.755C>T (p.Pro252Leu)	NECAB2, OSGIN1 (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487968	NM_182981.3(OSGIN1):c.772C>T (p.Pro258Ser)	NECAB2, OSGIN1 (P258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207154	NM_182981.3(OSGIN1):c.821C>T (p.Ala274Val)	NECAB2, OSGIN1 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303604	NM_182981.3(OSGIN1):c.826A>G (p.Thr276Ala)	NECAB2, OSGIN1 (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207155	NM_182981.3(OSGIN1):c.848C>T (p.Pro283Leu)	NECAB2, OSGIN1 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282943	NM_182981.3(OSGIN1):c.866T>A (p.Leu289His)	NECAB2, OSGIN1 (L289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344136	NM_182981.3(OSGIN1):c.913C>T (p.Arg305Cys)	NECAB2, OSGIN1 (R305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280521	NM_182981.3(OSGIN1):c.914G>A (p.Arg305His)	NECAB2, OSGIN1 (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396194	NM_182981.3(OSGIN1):c.940G>A (p.Ala314Thr)	NECAB2, OSGIN1 (A314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477208	NM_182981.3(OSGIN1):c.997C>A (p.Leu333Met)	NECAB2, OSGIN1 (L333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207149	NM_182981.3(OSGIN1):c.1009T>C (p.Tyr337His)	NECAB2, OSGIN1 (Y337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321264	NM_182981.3(OSGIN1):c.1059C>A (p.Ser353Arg)	NECAB2, OSGIN1 (S353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333997	NM_182981.3(OSGIN1):c.1089G>T (p.Arg363Ser)	NECAB2, OSGIN1 (R363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477207	NM_182981.3(OSGIN1):c.1127T>G (p.Val376Gly)	NECAB2, OSGIN1 (V376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207150	NM_182981.3(OSGIN1):c.1264G>A (p.Ala422Thr)	NECAB2, OSGIN1 (A422T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386006	NM_182981.3(OSGIN1):c.1285G>A (p.Val429Met)	NECAB2, OSGIN1 (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265500	NM_182981.3(OSGIN1):c.1331C>T (p.Ala444Val)	NECAB2, OSGIN1 (A444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2685582	GRCh37/hg19 16q23.3(chr16:83853229-84046593)x1	MLYCD, NECAB2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2427571	NC_000016.9:g.(?_83932750)_(84211465_?)dup	DNAAF1, HSDL1 +6 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1808982	GRCh37/hg19 16q23.3(chr16:82943629-84073053)x3	CDH13, HSBP1 +5 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 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1458761	NC_000016.9:g.(?_83932750)_(84056514_?)del	MLYCD, NECAB2 +2 more	Deletion	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
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 815858	GRCh37/hg19 16q23.3(chr16:83903257-84057905)x1	SLC38A8, NECAB2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815857	GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1	SLC38A8, MLYCD +5 more	Copy number loss	not provided	GUncertain significance
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 685177	GRCh37/hg19 16q23.3(chr16:83904100-84058759)x1	MLYCD, NECAB2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685060	GRCh37/hg19 16q23.3(chr16:83970585-84077491)x1	OSGIN1, SLC38A8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564361	GRCh37/hg19 16q23.3(chr16:83253758-84134459)x1	HSBP1, NECAB2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442604	GRCh37/hg19 16q23.3(chr16:83903257-84174323)x1	HSDL1, MBTPS1 +4 more	Copy number loss	See cases	GLikely benign
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441845	GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1	DNAAF1, HSDL1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394704	GRCh37/hg19 16q23.3(chr16:83998698-84024074)x1	NECAB2, OSGIN1	Copy number loss	See cases	GLikely benign
Select item 394435	GRCh37/hg19 16q23.3(chr16:83986845-84014686)x3	NECAB2, OSGIN1	Copy number gain	See cases	GBenign/Likely benign
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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