"GeneDx"[submitter] AND "FGF13"[gene] - ClinVar

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Items: 33

	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 58686	GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2	ARHGEF6, ATP11C +50 more	Copy number gain	See cases	GPathogenic
Select item 1804273	NM_004114.5(FGF13):c.720C>A (p.Ser240Arg)	FGF13 (S187R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804314	NM_004114.5(FGF13):c.694G>A (p.Val232Met)	FGF13 (V179M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1700758	NM_004114.5(FGF13):c.385G>A (p.Gly129Arg)	FGF13 (G110R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430613	NM_004114.5(FGF13):c.293C>T (p.Thr98Ile)	FGF13 (T108I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442774	NM_004114.5(FGF13):c.289A>G (p.Ser97Gly)	FGF13 (S107G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367325	NM_004114.5(FGF13):c.189G>C (p.Glu63Asp)	FGF13 (E10D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372581	NM_004114.5(FGF13):c.146dup (p.Lys50fs)	FGF13 (K50fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2430413	NM_004114.5(FGF13):c.101G>C (p.Gly34Ala)	FGF13 (G34A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 997408	NM_004114.5(FGF13):c.41G>C (p.Arg14Thr)	FGF13 (R14T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2446541	NM_004114.5(FGF13):c.5C>A (p.Ala2Glu)	FGF13 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363779	NM_001139498.2(FGF13):c.50-148602G>A	FGF13 (E38K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362062	NM_001139498.2(FGF13):c.50-148652C>A	FGF13 (A21D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375506	NM_001139498.2(FGF13):c.50-148734_50-148730delinsGCTGA	FGF13	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 2579972	NM_001139498.2(FGF13):c.50-148733dup	FGF13 (G24fs)	Duplication (frameshift variant +2 more)	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 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 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: 33