INSM2[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 2299348	NM_032594.4(INSM2):c.70C>T (p.Arg24Cys)	INSM2 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214915	NM_032594.4(INSM2):c.118G>A (p.Glu40Lys)	INSM2 (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226133	NM_032594.4(INSM2):c.167C>A (p.Thr56Asn)	INSM2 (T56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522595	NM_032594.4(INSM2):c.178C>A (p.Pro60Thr)	INSM2 (P60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109929	NM_032594.4(INSM2):c.209G>A (p.Arg70Gln)	INSM2 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351577	NM_032594.4(INSM2):c.253G>C (p.Gly85Arg)	INSM2 (G85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109930	NM_032594.4(INSM2):c.283C>T (p.Arg95Trp)	INSM2 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266733	NM_032594.4(INSM2):c.331A>T (p.Ser111Cys)	INSM2 (S111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590694	NM_032594.4(INSM2):c.408G>C (p.Glu136Asp)	INSM2 (E136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243272	NM_032594.4(INSM2):c.452C>T (p.Ser151Phe)	INSM2 (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490297	NM_032594.4(INSM2):c.475A>G (p.Thr159Ala)	INSM2 (T159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544861	NM_032594.4(INSM2):c.479C>T (p.Pro160Leu)	INSM2 (P160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211592	NM_032594.4(INSM2):c.512C>G (p.Pro171Arg)	INSM2 (P171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404025	NM_032594.4(INSM2):c.577C>G (p.Arg193Gly)	INSM2 (R193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308398	NM_032594.4(INSM2):c.605A>G (p.Lys202Arg)	INSM2 (K202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245555	NM_032594.4(INSM2):c.613A>C (p.Thr205Pro)	INSM2 (T205P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109931	NM_032594.4(INSM2):c.620G>A (p.Cys207Tyr)	INSM2 (C207Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240155	NM_032594.4(INSM2):c.646A>G (p.Ile216Val)	INSM2 (I216V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109932	NM_032594.4(INSM2):c.724A>G (p.Lys242Glu)	INSM2 (K242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215034	NM_032594.4(INSM2):c.743C>T (p.Ala248Val)	INSM2 (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109933	NM_032594.4(INSM2):c.759G>T (p.Leu253Phe)	INSM2 (L253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285564	NM_032594.4(INSM2):c.763G>A (p.Gly255Ser)	INSM2 (G255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280626	NM_032594.4(INSM2):c.857T>C (p.Ile286Thr)	INSM2 (I286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109934	NM_032594.4(INSM2):c.950C>G (p.Pro317Arg)	INSM2 (P317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109935	NM_032594.4(INSM2):c.977C>T (p.Ser326Phe)	INSM2 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221989	NM_032594.4(INSM2):c.997C>A (p.Pro333Thr)	INSM2 (P333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109924	NM_032594.4(INSM2):c.1016C>T (p.Ser339Phe)	INSM2 (S339F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531102	NM_032594.4(INSM2):c.1031G>A (p.Gly344Glu)	INSM2 (G344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387752	NM_032594.4(INSM2):c.1066A>G (p.Asn356Asp)	INSM2 (N356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213003	NM_032594.4(INSM2):c.1088C>T (p.Ala363Val)	INSM2 (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109925	NM_032594.4(INSM2):c.1121G>C (p.Gly374Ala)	INSM2 (G374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109926	NM_032594.4(INSM2):c.1135C>T (p.Pro379Ser)	INSM2 (P379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109927	NM_032594.4(INSM2):c.1301A>G (p.Lys434Arg)	INSM2 (K434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603177	NM_032594.4(INSM2):c.1433A>G (p.His478Arg)	INSM2 (H478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310688	NM_032594.4(INSM2):c.1473G>T (p.Trp491Cys)	INSM2 (W491C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	FAM177A1, BAZ1A +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 62