Related gene-specific medical variations for Gene (Select 1311) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383202	NM_000095.3(COMP):c.1520A>C (p.Asp507Ala)	COMP (D507A)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GUncertain significance
Select item 3382971	NM_000095.3(COMP):c.1526A>C (p.Asp509Ala)	COMP (D509A)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more	GUncertain significance
Select item 3066042	NM_000095.3(COMP):c.1359del (p.Asn453fs)	COMP (N453fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 1	GPathogenic
Select item 3065273	NM_000095.3(COMP):c.1586C>A (p.Thr529Asn)	COMP (T529N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 2440512	NM_000095.3(COMP):c.983G>A (p.Cys328Tyr)	COMP (C328Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440511	NM_000095.3(COMP):c.452G>A (p.Cys151Tyr)	COMP (C151Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679945	NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)	COMP (D290Y)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GPathogenic
Select item 1675213	NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)	COMP	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675208	NM_000095.3(COMP):c.500G>A (p.Gly167Glu)	COMP (G167E)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1324155	NM_000095.3(COMP):c.1136-1_1144del	COMP	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1224441	NM_000095.3(COMP):c.1811A>G (p.Gln604Arg)	COMP (Q604R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224414	NM_000095.3(COMP):c.1304A>T (p.Asp435Val)	COMP (D435V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224394	NM_000095.3(COMP):c.1393G>A (p.Gly465Ser)	COMP (G465S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224328	NM_000095.3(COMP):c.1475A>C (p.Gln492Pro)	COMP (Q492P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 998037	NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	COMP (G404R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 993568	NM_000095.3(COMP):c.79+102C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811449	NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del)	COMP	Deletion (inframe_deletion)	not specified	GLikely pathogenic
Select item 811446	NM_000095.3(COMP):c.2088-4T>C	COMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 811379	NM_000095.3(COMP):c.437G>A (p.Ser146Asn)	COMP (S146N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 808505	NM_000095.3(COMP):c.984C>G (p.Cys328Trp)	COMP (C328W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 618583	NM_000095.3(COMP):c.1737C>T (p.Gly579=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 255120	NM_000095.3(COMP):c.1755G>T (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255118	NM_000095.3(COMP):c.165+41G>C	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 235706	NM_000095.3(COMP):c.1279_1291del (p.Gly427fs)	COMP (G427fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 65556	NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	COMP (S681C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65555	NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	COMP (D605N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65554	NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	COMP (N555K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65553	NM_000095.3(COMP):c.1156_1158del (p.Asn386del)	COMP (N386del)	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 40994	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	COMP (T585R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +2 more	GPathogenic
Select item 40993	NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)	COMP (T585K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Gnot provided
Select item 40992	NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)	COMP (E583K)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Gnot provided

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Links from Gene

Items: 31