"GeneDx"[submitter] AND "FRMD7"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58669	GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2	AIFM1, APLN +127 more	Copy number gain	See cases	GPathogenic
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 1311542	NM_194277.3(FRMD7):c.975-9G>A	FRMD7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1497960	NM_194277.3(FRMD7):c.906-2A>G	FRMD7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 280271	NM_194277.3(FRMD7):c.905+1G>A	FRMD7	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 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 1197628	NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)	FRMD7 (R246Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1309656	NM_194277.3(FRMD7):c.772A>G (p.Met258Val)	FRMD7 (M243V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291614	NM_194277.3(FRMD7):c.742-130C>A	FRMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449483	NM_194277.3(FRMD7):c.685C>T (p.Arg229Cys)	FRMD7 (R229C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1025022	NM_194277.3(FRMD7):c.580G>A (p.Ala194Thr)	FRMD7 (A179T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1305048	NM_194277.3(FRMD7):c.568A>G (p.Arg190Gly)	FRMD7 (R175G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1271981	NM_194277.3(FRMD7):c.383-132G>A	FRMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288445	NM_194277.3(FRMD7):c.383-181dup	FRMD7	Duplication (intron variant)	not provided	GBenign
Select item 1343928	NM_194277.3(FRMD7):c.342_343dup (p.Asp115fs)	FRMD7 (D100fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1305761	NM_194277.3(FRMD7):c.337T>C (p.Cys113Arg)	FRMD7 (C113R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236160	NM_194277.3(FRMD7):c.285-104G>C	FRMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235328	NM_194277.3(FRMD7):c.284+37C>T	FRMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343629	NM_194277.3(FRMD7):c.213G>A (p.Lys71=)	FRMD7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 424446	NM_194277.3(FRMD7):c.206-4T>G	FRMD7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1227049	NM_194277.3(FRMD7):c.206-84GT[14]	FRMD7	Microsatellite (intron variant)	not provided	GBenign
Select item 807817	NM_194277.3(FRMD7):c.163G>C (p.Val55Leu)	FRMD7 (V55L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706825	NM_194277.3(FRMD7):c.163-1G>T	FRMD7	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1228676	NM_194277.3(FRMD7):c.163-139T>C	FRMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282747	NM_194277.3(FRMD7):c.162+136A>G	FRMD7	Single nucleotide variant (intron variant)	not provided	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 3338891	NM_194277.3(FRMD7):c.57+4A>G	FRMD7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1708861	NM_194277.3(FRMD7):c.57+1G>A	FRMD7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1219261	NM_194277.3(FRMD7):c.47T>C (p.Phe16Ser)	FRMD7 (F16S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2662320	NM_194277.3(FRMD7):c.17T>G (p.Val6Gly)	FRMD7 (V6G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253532	GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0	IGSF1, TFDP3 +11 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253469	GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0	GPC3, ENOX2 +11 more	Copy number loss	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 55