"GeneDx"[submitter] AND "NIN"[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 151226	GRCh38/hg38 14q22.1(chr14:50689616-50793614)x3	LOC126861936, LOC130055602 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58308	GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3	ABHD12B, LOC105370489 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1274581	NM_020921.4(NIN):c.6192+176C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261594	NM_020921.4(NIN):c.6192+100C>G	NIN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1250757	NM_020921.4(NIN):c.6192+12C>T	NIN	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 7 +1 more	GBenign
Select item 1289951	NM_020921.4(NIN):c.6078+254A>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227401	NM_020921.4(NIN):c.6078+252dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1280062	NM_020921.4(NIN):c.6078+99A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288340	NM_020921.4(NIN):c.5878-216A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251843	NM_020921.4(NIN):c.5878-270G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129798	NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)	NIN (Q1934E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1281239	NM_020921.4(NIN):c.5775+293C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129797	NM_020921.4(NIN):c.5637G>A (p.Gln1879=)	NIN	Single nucleotide variant (synonymous variant)	Seckel syndrome 7 +1 more	GBenign
Select item 129796	NM_020921.4(NIN):c.5628+5T>C	NIN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1249387	NM_020921.4(NIN):c.5449-248G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242900	NM_020921.4(NIN):c.5448+157A>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266755	NM_020921.4(NIN):c.5448+89G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234048	NM_020921.4(NIN):c.5448+63_5448+64insACT	NIN	Insertion (intron variant)	not provided	GBenign
Select item 1183508	NM_020921.4(NIN):c.5301+274dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1260351	NM_020921.4(NIN):c.5301+201A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291810	NM_020921.4(NIN):c.5188-158C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288161	NM_020921.4(NIN):c.5187+157del	LOC126861936, NIN	Deletion (intron variant)	not provided	GBenign
Select item 1274504	NM_020921.4(NIN):c.5187+108A>G	LOC126861936, NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249629	NM_020921.4(NIN):c.5064+235dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1281599	NM_020921.4(NIN):c.5064+241C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251124	NM_020921.4(NIN):c.5064+241del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1287803	NM_020921.4(NIN):c.4951-107A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268411	NM_020921.4(NIN):c.4950+137G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129791	NM_020921.4(NIN):c.4837C>T (p.Arg1613Cys)	NIN (R1613C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248272	NM_020921.4(NIN):c.4735-64dup	NIN	Duplication (intron variant)	not provided	GBenign
Select item 1246395	NM_020921.4(NIN):c.4735-51_4735-50del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1236815	NM_020921.4(NIN):c.4735-50del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1275667	NM_020921.4(NIN):c.4539-87T>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281871	NM_020921.4(NIN):c.4538+104C>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129789	NM_020921.4(NIN):c.3459G>A (p.Arg1153=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 129787	NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala)	NIN (P1111A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 129786	NM_020921.4(NIN):c.3090A>T (p.Ser1030=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 129782	NM_020921.4(NIN):c.2616C>A (p.Ala872=)	NIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1179552	NM_020921.4(NIN):c.2400-273T>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265379	NM_020921.4(NIN):c.2399+239T>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249513	NM_020921.4(NIN):c.2399+136G>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129781	NM_020921.4(NIN):c.1974T>C (p.His658=)	LOC130055602, NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1238525	NM_020921.4(NIN):c.1897-80_1897-79del	LOC130055603, NIN	Deletion (intron variant)	not provided	GBenign
Select item 1268649	NM_020921.4(NIN):c.1897-245A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239989	NM_020921.4(NIN):c.1775-26G>C	NIN	Single nucleotide variant (intron variant)	Seckel syndrome 7 +1 more	GBenign
Select item 1232177	NM_020921.4(NIN):c.1775-53C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229278	NM_020921.4(NIN):c.1775-94C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279771	NM_020921.4(NIN):c.1774+293C>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282135	NM_020921.4(NIN):c.1774+184A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257547	NM_020921.4(NIN):c.1774+112_1774+115del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1275297	NM_020921.4(NIN):c.1774+112del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1228572	NM_020921.4(NIN):c.1774+111_1774+112del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1243883	NM_020921.4(NIN):c.1774+99A>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290703	NM_020921.4(NIN):c.1635+160T>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250783	NM_020921.4(NIN):c.1259+132G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129779	NM_020921.4(NIN):c.1128T>C (p.Val376=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1246796	NM_020921.4(NIN):c.1118+169A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296801	NM_020921.4(NIN):c.982-217del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1179971	NM_020921.4(NIN):c.981+290del	NIN	Deletion (intron variant)	not provided	GBenign
Select item 1283691	NM_020921.4(NIN):c.981+260G>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129803	NM_020921.4(NIN):c.933G>C (p.Leu311=)	NIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129802	NM_020921.4(NIN):c.819C>T (p.Phe273=)	NIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1267433	NM_020921.4(NIN):c.814-130G>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263829	NM_020921.4(NIN):c.814-131T>A	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250604	NM_020921.4(NIN):c.814-196C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234406	NM_020921.4(NIN):c.666+105A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288913	NM_020921.4(NIN):c.436-144A>G	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174330	NM_020921.4(NIN):c.266-202C>T	NIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252487	NM_020921.4(NIN):c.184-238T>C	NIN	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 70