LOC126860094[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 2389063	NM_001384900.1(SEMA3D):c.2323G>A (p.Val775Ile)	LOC126860094, SEMA3D (V775I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629052	NM_001384900.1(SEMA3D):c.2317A>G (p.Arg773Gly)	LOC126860094, SEMA3D (R773G)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3349927	NM_001384900.1(SEMA3D):c.2314C>G (p.Pro772Ala)	LOC126860094, SEMA3D (P772A)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3354258	NM_001384900.1(SEMA3D):c.2292T>C (p.His764=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3358827	NM_001384900.1(SEMA3D):c.2280A>C (p.Arg760=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3345958	NM_001384900.1(SEMA3D):c.2271G>T (p.Lys757Asn)	LOC126860094, SEMA3D (K757N)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3356893	NM_001384900.1(SEMA3D):c.2256C>T (p.His752=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 2657653	NM_001384900.1(SEMA3D):c.2211G>A (p.Arg737=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636865	NM_001384900.1(SEMA3D):c.2194G>A (p.Glu732Lys)	LOC126860094, SEMA3D (E732K)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3030163	NM_001384900.1(SEMA3D):c.2193C>T (p.Cys731=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3352443	NM_001384900.1(SEMA3D):c.2181C>T (p.Leu727=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 2634320	NM_001384900.1(SEMA3D):c.2176A>G (p.Ser726Gly)	LOC126860094, SEMA3D (S726G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354016	NM_001384900.1(SEMA3D):c.2170A>G (p.Asn724Asp)	LOC126860094, SEMA3D (N724D)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3347130	NM_001384900.1(SEMA3D):c.2163C>A (p.Ser721Arg)	LOC126860094, SEMA3D (S721R)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3029219	NM_001384900.1(SEMA3D):c.2151C>A (p.Ile717=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3032263	NM_001384900.1(SEMA3D):c.2147A>G (p.Tyr716Cys)	LOC126860094, SEMA3D (Y716C)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3159717	NM_001384900.1(SEMA3D):c.2129G>A (p.Arg710Gln)	LOC126860094, SEMA3D (R710Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353681	NM_001384900.1(SEMA3D):c.2114T>G (p.Leu705Arg)	LOC126860094, SEMA3D (L705R)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3355725	NM_001384900.1(SEMA3D):c.2113C>T (p.Leu705=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3356331	NM_001384900.1(SEMA3D):c.2105del (p.Val702fs)	LOC126860094, SEMA3D (V702fs)	Deletion (frameshift variant)	SEMA3D-related disorder	GUncertain significance
Select item 3060976	NM_001384900.1(SEMA3D):c.2101A>C (p.Lys701Gln)	LOC126860094, SEMA3D (K701Q)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GBenign
Select item 3051634	NM_001384900.1(SEMA3D):c.2061A>G (p.Glu687=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3357050	NM_001384900.1(SEMA3D):c.2051T>G (p.Ile684Ser)	LOC126860094, SEMA3D (I684S)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3356126	NM_001384900.1(SEMA3D):c.2051T>C (p.Ile684Thr)	SEMA3D, LOC126860094 (I684T)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3049025	NM_001384900.1(SEMA3D):c.2040T>A (p.Thr680=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3344743	NM_001384900.1(SEMA3D):c.2039C>T (p.Thr680Ile)	LOC126860094, SEMA3D (T680I)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3317288	NM_001384900.1(SEMA3D):c.2029G>A (p.Val677Met)	LOC126860094, SEMA3D (V677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636517	NM_001384900.1(SEMA3D):c.2027T>C (p.Ile676Thr)	LOC126860094, SEMA3D (I676T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3349119	NM_001384900.1(SEMA3D):c.1993T>A (p.Cys665Ser)	LOC126860094, SEMA3D (C665S)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 3357525	NM_001384900.1(SEMA3D):c.1989T>C (p.Tyr663=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	SEMA3D-related disorder	GLikely benign
Select item 3351230	NM_001384900.1(SEMA3D):c.1986G>A (p.Met662Ile)	LOC126860094, SEMA3D (M662I)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2292272	NM_001384900.1(SEMA3D):c.1975G>T (p.Asp659Tyr)	LOC126860094, SEMA3D (D659Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354082	NM_001384900.1(SEMA3D):c.1973A>T (p.Lys658Met)	LOC126860094, SEMA3D (K658M)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2484437	NM_001384900.1(SEMA3D):c.1965G>T (p.Leu655Phe)	LOC126860094, SEMA3D (L655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351052	NM_001384900.1(SEMA3D):c.1958G>A (p.Arg653Gln)	LOC126860094, SEMA3D (R653Q)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 2634977	NM_001384900.1(SEMA3D):c.1957C>G (p.Arg653Gly)	LOC126860094, SEMA3D (R653G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3349844	NM_001384900.1(SEMA3D):c.1954A>T (p.Ile652Phe)	LOC126860094, SEMA3D (I652F)	Single nucleotide variant (missense variant)	SEMA3D-related disorder	GUncertain significance
Select item 742221	NM_001384900.1(SEMA3D):c.1938G>A (p.Thr646=)	LOC126860094, SEMA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159714	NM_001384900.1(SEMA3D):c.1937C>T (p.Thr646Met)	LOC126860094, SEMA3D (T646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475328	NM_001384900.1(SEMA3D):c.1920T>G (p.Asp640Glu)	LOC126860094, SEMA3D (D640E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43