"Illumina Laboratory Services, Illumina"[submitter] AND "FRMD7"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 367899	NM_194277.3(FRMD7):c.*748GTTT[1]	FRMD7	Microsatellite (3 prime UTR variant)	Infantile Nystagmus	GUncertain significance
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 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 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 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 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 367903	NM_194277.3(FRMD7):c.*434C>T	FRMD7	Single nucleotide variant (3 prime UTR variant)	Nystagmus 1, congenital, X-linked	GBenign
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 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 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 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 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 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 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 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 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 263088	NM_194277.3(FRMD7):c.1533T>C (p.Ile511=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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 263086	NM_194277.3(FRMD7):c.1101T>C (p.Asn367=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 263089	NM_194277.3(FRMD7):c.69C>T (p.Ser23=)	FRMD7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic

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Items: 42