ClinVar for MedGen (Select 333352) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441578	NM_194277.3(FRMD7):c.810T>G (p.Thr270=)	FRMD7	Single nucleotide variant (synonymous variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 2428834	NM_194277.3(FRMD7):c.902A>G (p.Tyr301Cys)	FRMD7 (Y286C +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GLikely pathogenic
Select item 2152352	NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)	FRMD7 (G281C +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 1710201	NM_194277.3(FRMD7):c.832T>C (p.Phe278Leu)	FRMD7 (F263L +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GLikely pathogenic
Select item 1324432	NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)	FRMD7 (L277P +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 1321255	NM_194277.3(FRMD7):c.285-12A>G	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 987019	NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter)	FRMD7 (R246* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 976097	NM_194277.3(FRMD7):c.1050+1G>C	FRMD7	Single nucleotide variant (splice donor variant)	Nystagmus 1, congenital, X-linked	GLikely pathogenic
Select item 914923	NM_194277.3(FRMD7):c.58-6G>A	FRMD7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914922	NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp)	FRMD7 (N53D)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 914921	NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr)	FRMD7 (K88T +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GUncertain significance
Select item 914870	NM_194277.3(FRMD7):c.*685T>C	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GLikely benign
Select item 914869	NM_194277.3(FRMD7):c.*730A>G	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GLikely benign
Select item 914868	NM_194277.3(FRMD7):c.*827T>A	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GLikely benign
Select item 914411	NM_194277.3(FRMD7):c.383-14T>C	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign/Likely benign
Select item 914410	NM_194277.3(FRMD7):c.384A>G (p.Ser128=)	FRMD7	Single nucleotide variant (synonymous variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 914409	NM_194277.3(FRMD7):c.718A>G (p.Ile240Val)	FRMD7 (I240V +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 914408	NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg)	FRMD7 (Q331R +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 913296	NM_194277.3(FRMD7):c.1200G>A (p.Ala400=)	FRMD7	Single nucleotide variant (synonymous variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 913295	NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg)	FRMD7 (Q479R +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GUncertain significance
Select item 912926	NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu)	FRMD7 (V549E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 912925	NM_194277.3(FRMD7):c.1799G>A (p.Arg600His)	FRMD7 (R600H +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 912924	NM_194277.3(FRMD7):c.*300T>C	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 731482	NM_194277.3(FRMD7):c.285-3C>T	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 714968	NM_194277.3(FRMD7):c.1558C>G (p.His520Asp)	FRMD7 (H520D +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 712417	NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser)	FRMD7 (P530S +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 625800	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	STK26, TFDP3 +9 more	Copy number loss	Nystagmus 1, congenital, X-linked +1 more	GPathogenic
Select item 367915	NM_194277.3(FRMD7):c.-102G>A	FRMD7	Single nucleotide variant (5 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367914	NM_194277.3(FRMD7):c.-100G>T	FRMD7	Single nucleotide variant (5 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367913	NM_194277.3(FRMD7):c.-14C>T	FRMD7	Single nucleotide variant (5 prime UTR variant)	Nystagmus 1, congenital, X-linked	GLikely benign
Select item 367912	NM_194277.3(FRMD7):c.284+10T>G	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 367911	NM_194277.3(FRMD7):c.383-11C>T	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 367910	NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr)	FRMD7 (C153Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 367909	NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg)	FRMD7 (S302R +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367908	NM_194277.3(FRMD7):c.1473G>T (p.Met491Ile)	FRMD7 (M491I +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 367907	NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro)	FRMD7 (Q548P +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 367906	NM_194277.3(FRMD7):c.*196G>C	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367905	NM_194277.3(FRMD7):c.*285C>T	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367904	NM_194277.3(FRMD7):c.*293G>C	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367903	NM_194277.3(FRMD7):c.*434C>T	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GBenign
Select item 367902	NM_194277.3(FRMD7):c.*573G>T	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GUncertain significance
Select item 367901	NM_194277.3(FRMD7):c.*600C>G	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked +1 more	GUncertain significance
Select item 367900	NM_194277.3(FRMD7):c.*665A>T	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 367898	NM_194277.3(FRMD7):c.*816G>A	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked +1 more	GBenign
Select item 263090	NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)	FRMD7 (S281L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 263089	NM_194277.3(FRMD7):c.69C>T (p.Ser23=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 263088	NM_194277.3(FRMD7):c.1533T>C (p.Ile511=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 263087	NM_194277.3(FRMD7):c.1403G>A (p.Arg468His)	FRMD7 (R468H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 263086	NM_194277.3(FRMD7):c.1101T>C (p.Asn367=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 192295	NM_194277.3(FRMD7):c.556A>G (p.Met186Val)	FRMD7 (M186V +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 29978	NM_194277.3(FRMD7):c.1050+5G>A	FRMD7	Single nucleotide variant (intron variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 29977	NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr)	FRMD7 (C271Y +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 29976	NM_194277.3(FRMD7):c.691T>G (p.Leu231Val)	FRMD7 (L231V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10790	NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs)	FRMD7 (E411fs +1 more)	Deletion (frameshift variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 10789	NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly)	FRMD7 (R229G +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 10788	NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)	FRMD7 (L142R +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 10787	NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del)	FRMD7 (K14del)	Microsatellite (inframe_deletion)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 10786	NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg)	FRMD7 (G24R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10785	NM_194277.3(FRMD7):c.252G>A (p.Val84=)	FRMD7 (M69I)	Single nucleotide variant (missense variant +1 more)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 10784	NM_194277.3(FRMD7):c.205+2T>G	FRMD7	Single nucleotide variant (splice donor variant)	Nystagmus 1, congenital, X-linked	GPathogenic
Select item 10783	NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter)	FRMD7 (R335* +1 more)	Single nucleotide variant (nonsense)	Nystagmus 1, congenital, X-linked +1 more	GPathogenic
Select item 10782	NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)	FRMD7 (Q201* +1 more)	Single nucleotide variant (nonsense)	Nystagmus 1, congenital, X-linked	GPathogenic

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Items: 62