NIT1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3200239	NM_005600.3(NIT1):c.67C>T (p.Pro23Ser)	NIT1 (P23S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293476	NM_005600.3(NIT1):c.82C>T (p.Leu28Phe)	NIT1 (L28F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395619	NM_005600.3(NIT1):c.95C>T (p.Pro32Leu)	NIT1 (P32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559212	NM_005600.3(NIT1):c.111G>A (p.Met37Ile)	NIT1 (M22I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483788	NM_005600.3(NIT1):c.154T>A (p.Cys52Ser)	NIT1 (C16S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232958	NM_005600.3(NIT1):c.215G>A (p.Arg72Gln)	NIT1 (R36Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291252	NM_005600.3(NIT1):c.220G>C (p.Ala74Pro)	NIT1 (A59P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570184	NM_005600.3(NIT1):c.293C>T (p.Thr98Met)	NIT1 (T98M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299844	NM_005600.3(NIT1):c.349G>A (p.Ala117Thr)	NIT1 (A102T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200238	NM_005600.3(NIT1):c.500T>G (p.Val167Gly)	NIT1 (V131G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311327	NM_005600.3(NIT1):c.508C>T (p.Pro170Ser)	NIT1 (P134S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535498	NM_005600.3(NIT1):c.529G>C (p.Glu177Gln)	NIT1 (E141Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299843	NM_005600.3(NIT1):c.536A>G (p.Asn179Ser)	NIT1 (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548356	NM_005600.3(NIT1):c.548C>T (p.Pro183Leu)	NIT1 (P168L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256938	NM_005600.3(NIT1):c.591+2T>G	NIT1	Single nucleotide variant (splice donor variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3299841	NM_005600.3(NIT1):c.598C>A (p.Leu200Ile)	NIT1 (L164I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350387	NM_005600.3(NIT1):c.692C>G (p.Ser231Cys)	NIT1 (S216C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354724	NM_005600.3(NIT1):c.727C>T (p.Arg243Trp)	NIT1 (R207W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200240	NM_005600.3(NIT1):c.742G>A (p.Glu248Lys)	NIT1 (E233K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200241	NM_005600.3(NIT1):c.774G>T (p.Gln258His)	NIT1 (Q222H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466764	NM_005600.3(NIT1):c.819G>A (p.Met273Ile)	NIT1 (M258I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411661	NM_005600.3(NIT1):c.823G>C (p.Val275Leu)	NIT1 (V239L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299842	NM_005600.3(NIT1):c.851G>A (p.Arg284His)	NIT1 (R248H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200242	NM_005600.3(NIT1):c.875G>A (p.Cys292Tyr)	NIT1 (C277Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219869	NM_005600.3(NIT1):c.920A>G (p.His307Arg)	NIT1 (H307R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588352	NM_005600.3(NIT1):c.940C>T (p.Arg314Cys)	NIT1 (R278C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391395	NM_005600.3(NIT1):c.941G>A (p.Arg314His)	NIT1 (R278H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226614	NM_005600.3(NIT1):c.945G>T (p.Arg315Ser)	NIT1 (R300S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200243	NM_005600.3(NIT1):c.968G>A (p.Gly323Asp)	NIT1 (G308D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081258	NM_032998.3(DEDD):c.938T>C (p.Met313Thr)	DEDD, NIT1 (M313T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481115	NM_032998.3(DEDD):c.682C>T (p.Arg228Cys)	DEDD, NIT1 (R228C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081256	NM_032998.3(DEDD):c.520G>C (p.Gly174Arg)	DEDD, NIT1 (G174R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081255	NM_032998.3(DEDD):c.373T>C (p.Tyr125His)	DEDD, NIT1 (Y125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271430	NM_032998.3(DEDD):c.371G>A (p.Arg124His)	DEDD, NIT1 (R124H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081254	NM_032998.3(DEDD):c.301G>A (p.Val101Ile)	DEDD, NIT1 (V101I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081253	NM_032998.3(DEDD):c.247C>G (p.Arg83Gly)	DEDD, NIT1 (R83G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303351	NM_032998.3(DEDD):c.205T>G (p.Leu69Val)	DEDD, NIT1 (L69V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271429	NM_032998.3(DEDD):c.172C>T (p.Arg58Cys)	DEDD, NIT1 (R58C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527394	NM_032998.3(DEDD):c.117C>G (p.His39Gln)	DEDD, NIT1 (H39Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271431	NM_032998.3(DEDD):c.115C>T (p.His39Tyr)	DEDD, NIT1 (H39Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081257	NM_032998.3(DEDD):c.83G>A (p.Arg28His)	DEDD, NIT1 (R28H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2562638	NM_032998.3(DEDD):c.19C>T (p.Arg7Trp)	DEDD, NIT1 (R7W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 60