18983[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 3300592	NM_178864.4(NPAS4):c.166T>C (p.Phe56Leu)	LOC113939926, NPAS4 (F56L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254695	NM_178864.4(NPAS4):c.202C>T (p.Leu68Phe)	NPAS4 (L68F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241706	NM_178864.4(NPAS4):c.211G>T (p.Ala71Ser)	NPAS4 (A71S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234859	NM_178864.4(NPAS4):c.319C>A (p.His107Asn)	NPAS4 (H107N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300591	NM_178864.4(NPAS4):c.322T>C (p.Ser108Pro)	NPAS4 (S108P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622112	NM_178864.4(NPAS4):c.361G>A (p.Asp121Asn)	NPAS4 (D121N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280073	NM_178864.4(NPAS4):c.406A>G (p.Thr136Ala)	NPAS4 (T136A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2498188	NM_178864.4(NPAS4):c.481_487del (p.Ser161fs)	NPAS4 (S161fs)	Deletion (5 prime UTR variant +1 more)	Microcephaly	GUncertain significance
Select item 3300590	NM_178864.4(NPAS4):c.502C>T (p.Leu168Phe)	NPAS4 (L168F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300593	NM_178864.4(NPAS4):c.598C>T (p.Arg200Cys)	NPAS4 (R200C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2356718	NM_178864.4(NPAS4):c.605G>T (p.Gly202Val)	NPAS4 (V29F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300589	NM_178864.4(NPAS4):c.610G>A (p.Gly204Ser)	NPAS4 (G204S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2535127	NM_178864.4(NPAS4):c.784G>A (p.Ala262Thr)	NPAS4 (A262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641990	NM_178864.4(NPAS4):c.875C>T (p.Ala292Val)	NPAS4 (A292V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2298645	NM_178864.4(NPAS4):c.949A>G (p.Met317Val)	NPAS4 (M107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285752	NM_178864.4(NPAS4):c.950T>A (p.Met317Lys)	NPAS4 (M107K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606754	NM_178864.4(NPAS4):c.961A>G (p.Ser321Gly)	NPAS4 (S321G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543420	NM_178864.4(NPAS4):c.1064A>G (p.Glu355Gly)	NPAS4 (E355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221651	NM_178864.4(NPAS4):c.1082C>A (p.Pro361Gln)	NPAS4 (P361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267071	NM_178864.4(NPAS4):c.1232C>A (p.Ser411Tyr)	NPAS4 (S201Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201538	NM_178864.4(NPAS4):c.1333C>T (p.Gln445Ter)	NPAS4 (Q445* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2615381	NM_178864.4(NPAS4):c.1390G>A (p.Ala464Thr)	NPAS4 (A254T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397118	NM_178864.4(NPAS4):c.1427C>T (p.Thr476Ile)	NPAS4 (T266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401173	NM_178864.4(NPAS4):c.1472A>G (p.Glu491Gly)	NPAS4 (E491G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771747	NM_178864.4(NPAS4):c.1479G>C (p.Ser493=)	NPAS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2412437	NM_178864.4(NPAS4):c.1484G>C (p.Arg495Thr)	NPAS4 (R495T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300709	NM_178864.4(NPAS4):c.1486A>G (p.Ser496Gly)	NPAS4 (S286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525220	NM_178864.4(NPAS4):c.1497C>A (p.Asp499Glu)	NPAS4 (D289E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707951	NM_178864.4(NPAS4):c.1498C>A (p.Gln500Lys)	NPAS4 (Q290K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2590622	NM_178864.4(NPAS4):c.1508C>T (p.Pro503Leu)	NPAS4 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201539	NM_178864.4(NPAS4):c.1565C>T (p.Pro522Leu)	NPAS4 (P312L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613132	NM_178864.4(NPAS4):c.1661G>A (p.Ser554Asn)	NPAS4 (S344N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201540	NM_178864.4(NPAS4):c.1687G>T (p.Ala563Ser)	NPAS4 (A563S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201541	NM_178864.4(NPAS4):c.1899C>A (p.Asp633Glu)	NPAS4 (D423E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263449	NM_178864.4(NPAS4):c.1926G>T (p.Leu642Phe)	NPAS4 (L642F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285751	NM_178864.4(NPAS4):c.1937T>C (p.Met646Thr)	NPAS4 (M436T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333873	NM_178864.4(NPAS4):c.1944A>C (p.Arg648Ser)	NPAS4 (R438S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201542	NM_178864.4(NPAS4):c.2026G>T (p.Gly676Trp)	NPAS4 (G466W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201543	NM_178864.4(NPAS4):c.2063C>T (p.Pro688Leu)	NPAS4 (P688L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788364	NM_178864.4(NPAS4):c.2104A>G (p.Asn702Asp)	NPAS4 (N492D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609675	NM_178864.4(NPAS4):c.2107A>G (p.Met703Val)	NPAS4 (M493V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512836	NM_178864.4(NPAS4):c.2116G>A (p.Glu706Lys)	NPAS4 (E496K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201544	NM_178864.4(NPAS4):c.2149C>A (p.Leu717Ile)	NPAS4 (L507I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781811	NM_178864.4(NPAS4):c.2172G>A (p.Glu724=)	NPAS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306955	NM_178864.4(NPAS4):c.2191C>T (p.Pro731Ser)	NPAS4 (P731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201545	NM_178864.4(NPAS4):c.2200G>A (p.Glu734Lys)	NPAS4 (E524K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350823	NM_178864.4(NPAS4):c.2222C>T (p.Ser741Leu)	NPAS4 (S741L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785363	NM_178864.4(NPAS4):c.2319T>C (p.Tyr773=)	NPAS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425650	NC_000011.9:g.(?_66099747)_(66291373_?)dup	B4GAT1, BBS1 +7 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527645	GRCh37/hg19 11q13.2(chr11:66188172-66402747)	ACTN3, BBS1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 66