NID1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 1251054	NM_002508.3(NID1):c.3737A>G (p.Gln1246Arg)	NID1 (Q1246R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299715	NM_002508.3(NID1):c.3692C>A (p.Thr1231Asn)	NID1 (T1231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 450169	NM_002508.3(NID1):c.3680dup (p.Gly1228fs)	NID1 (G1228fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 789961	NM_002508.3(NID1):c.3677C>T (p.Thr1226Ile)	NID1 (T1226I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2284630	NM_002508.3(NID1):c.3658A>G (p.Thr1220Ala)	NID1 (T1220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373384	NM_002508.3(NID1):c.3652G>A (p.Gly1218Ser)	NID1 (G1218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370544	NM_002508.3(NID1):c.3638C>T (p.Ser1213Leu)	NID1 (S1213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242420	NM_002508.3(NID1):c.3622+42A>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2288994	NM_002508.3(NID1):c.3586T>A (p.Tyr1196Asn)	NID1 (Y1196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780005	NM_002508.3(NID1):c.3510-4G>A	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282027	NM_002508.3(NID1):c.3510-158A>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272910	NM_002508.3(NID1):c.3510-163G>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770124	NM_002508.3(NID1):c.3487C>G (p.Leu1163Val)	NID1 (L1163V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3336388	NM_002508.3(NID1):c.3471G>A (p.Thr1157=)	NID1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2384741	NM_002508.3(NID1):c.3424A>T (p.Ser1142Cys)	NID1 (S1142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200015	NM_002508.3(NID1):c.3395G>T (p.Arg1132Leu)	NID1 (R1132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245717	NM_002508.3(NID1):c.3386-65dup	NID1	Duplication (intron variant)	not provided	GBenign
Select item 183319	NM_002508.3(NID1):c.3385+1G>A	NID1	Single nucleotide variant (splice donor variant)	Hydrocephalus +2 more	GLikely pathogenic
Select item 2216113	NM_002508.3(NID1):c.3320A>T (p.Asp1107Val)	NID1 (D1107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562528	NM_002508.3(NID1):c.3302G>C (p.Arg1101Thr)	NID1 (R1101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733216	NM_002508.3(NID1):c.3294G>A (p.Thr1098=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284236	NM_002508.3(NID1):c.3283A>G (p.Met1095Val)	NID1 (M1095V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241800	NM_002508.3(NID1):c.3228-308A>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237223	NM_002508.3(NID1):c.3227+157G>T	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783019	NM_002508.3(NID1):c.3219C>A (p.Ser1073=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1285656	NM_002508.3(NID1):c.3187T>C (p.Leu1063=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200013	NM_002508.3(NID1):c.3131G>A (p.Arg1044Gln)	NID1 (R1044Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531485	NM_002508.3(NID1):c.3116A>G (p.Asp1039Gly)	NID1 (D1039G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557378	NM_002508.3(NID1):c.3098G>T (p.Arg1033Leu)	NID1 (R1033L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351756	NM_002508.3(NID1):c.3098G>A (p.Arg1033His)	NID1 (R1033H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233072	NM_002508.3(NID1):c.3056-63A>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276887	NM_002508.3(NID1):c.3056-207T>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247439	NM_002508.3(NID1):c.3055+186del	NID1	Deletion (intron variant)	not provided	GBenign
Select item 2280809	NM_002508.3(NID1):c.2987A>G (p.Asp996Gly)	NID1 (D996G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299717	NM_002508.3(NID1):c.2984C>T (p.Thr995Met)	NID1 (T995M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 449213	NM_002508.3(NID1):c.2947C>A (p.Leu983Met)	NID1 (L983M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279518	NM_002508.3(NID1):c.2929-257TA[5]	NID1	Microsatellite (intron variant)	not provided	GBenign
Select item 1266743	NM_002508.3(NID1):c.2929-249C>T	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280529	NM_002508.3(NID1):c.2928+174G>A	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267875	NM_002508.3(NID1):c.2928+120_2928+128del	NID1	Deletion (intron variant)	not provided	GBenign
Select item 2618278	NM_002508.3(NID1):c.2927C>T (p.Pro976Leu)	NID1 (P976L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361565	NM_002508.3(NID1):c.2921A>G (p.His974Arg)	NID1 (H974R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724324	NM_002508.3(NID1):c.2908A>G (p.Lys970Glu)	NID1 (K970E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2538214	NM_002508.3(NID1):c.2822C>T (p.Pro941Leu)	NID1 (P941L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593399	NM_002508.3(NID1):c.2806G>A (p.Ala936Thr)	NID1 (A936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787653	NM_002508.3(NID1):c.2795C>T (p.Ala932Val)	NID1 (A932V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2368262	NM_002508.3(NID1):c.2777C>T (p.Pro926Leu)	NID1 (P926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234204	NM_002508.3(NID1):c.2756-7C>A	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2549786	NM_002508.3(NID1):c.2746A>C (p.Thr916Pro)	NID1 (T916P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713675	NM_002508.3(NID1):c.2667C>T (p.Cys889=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346453	NM_002508.3(NID1):c.2641C>T (p.His881Tyr)	NID1 (H881Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200010	NM_002508.3(NID1):c.2579C>G (p.Ala860Gly)	NID1 (A860G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712955	NM_002508.3(NID1):c.2577A>G (p.Ala859=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494942	NM_002508.3(NID1):c.2563C>G (p.His855Asp)	NID1 (H855D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200008	NM_002508.3(NID1):c.2562A>C (p.Glu854Asp)	NID1 (E854D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218612	NM_002508.3(NID1):c.2550G>C (p.Gln850His)	NID1 (Q850H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282638	NM_002508.3(NID1):c.2528-105A>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281284	NM_002508.3(NID1):c.2528-261T>A	LOC107546746, NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283945	NM_002508.3(NID1):c.2527+68A>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386892	NM_002508.3(NID1):c.2518G>A (p.Val840Met)	NID1 (V840M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344420	NM_002508.3(NID1):c.2513G>A (p.Arg838His)	NID1 (R838H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606365	NM_002508.3(NID1):c.2506G>A (p.Gly836Ser)	NID1 (G836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289837	NM_002508.3(NID1):c.2439T>A (p.Pro813=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2495098	NM_002508.3(NID1):c.2428C>G (p.Arg810Gly)	NID1 (R810G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282348	NM_002508.3(NID1):c.2421G>T (p.Gln807His)	NID1 (Q807H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1256782	NM_002508.3(NID1):c.2409A>G (p.Val803=)	NID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790812	NM_002508.3(NID1):c.2405-8T>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251379	NM_002508.3(NID1):c.2405-242G>A	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 599313	NM_002508.3(NID1):c.2129-2427_2405-658del	NID1	Deletion (splice acceptor variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 778256	NM_002508.3(NID1):c.2338A>C (p.Thr780Pro)	NID1 (T780P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3200007	NM_002508.3(NID1):c.2321G>A (p.Arg774Gln)	NID1 (R774Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305493	NM_002508.3(NID1):c.2282A>G (p.Tyr761Cys)	NID1 (Y761C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257659	NM_002508.3(NID1):c.2255-130A>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289447	NM_002508.3(NID1):c.2255-322T>C	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282448	NM_002508.3(NID1):c.2254+305dup	NID1	Duplication (intron variant)	not provided	GBenign
Select item 1297955	NM_002508.3(NID1):c.2254+268T>G	NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3200006	NM_002508.3(NID1):c.2227C>G (p.Gln743Glu)	NID1 (Q743E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200005	NM_002508.3(NID1):c.2209G>A (p.Glu737Lys)	NID1 (E737K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770687	NM_002508.3(NID1):c.2204G>A (p.Arg735His)	NID1 (R735H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3200004	NM_002508.3(NID1):c.2198C>T (p.Thr733Ile)	NID1 (T733I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728598	NM_002508.3(NID1):c.2198C>A (p.Thr733Asn)	NID1 (T733N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2464380	NM_002508.3(NID1):c.2188C>T (p.His730Tyr)	NID1 (H730Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396665	NM_002508.3(NID1):c.2134G>A (p.Asp712Asn)	NID1 (D712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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