"GeneDx"[submitter] AND "FHL1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	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 57989	GRCh38/hg38 Xq26.3(chrX:136121668-136310367)x1	ADGRG4, FHL1 +4 more	Copy number loss	See cases	GPathogenic
Select item 1248339	NC_000023.11:g.136147468A>C	FHL1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1281259	NM_001159702.3(FHL1):c.-158C>T	FHL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 512539	NM_001159702.3(FHL1):c.-109C>A	FHL1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515310	NM_001159702.3(FHL1):c.-108C>T	FHL1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 488949	NM_001159702.3(FHL1):c.-101+3A>G	FHL1	Single nucleotide variant (intron variant)	not provided +5 more	GUncertain significance
Select item 390490	NM_001159702.3(FHL1):c.-101+10C>G	FHL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1212687	NM_001159702.3(FHL1):c.-101+94C>G	FHL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1249824	NM_001159702.3(FHL1):c.-100-378dup	FHL1	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 510267	NM_001159702.3(FHL1):c.-33G>C	FHL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 507047	NM_001159702.3(FHL1):c.-27+17G>T	FHL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1304791	NM_001159702.3(FHL1):c.-27+97del	FHL1	Deletion (intron variant)	not provided	GBenign
Select item 1309712	NM_001159699.2(FHL1):c.3G>A (p.Met1Ile)	FHL1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 669527	NM_001159699.2(FHL1):c.23-282A>G	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187282	NM_001159699.2(FHL1):c.23-252C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386800	NM_001159699.2(FHL1):c.23-5C>T	FHL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 289087	NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)	FHL1 (A2V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 1423972	NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)	FHL1 (C26Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +6 more	GUncertain significance
Select item 288181	NM_001159699.2(FHL1):c.114G>A (p.Lys38=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +3 more	GBenign/Likely benign
Select item 862874	NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)	FHL1 (K30R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 546307	NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)	FHL1 (C40Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 513860	NM_001159699.2(FHL1):c.179G>A (p.Arg60His)	FHL1 (R44H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1301466	NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)	FHL1 (G48S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 1300841	NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)	FHL1 (A49V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 239005	NM_001159699.2(FHL1):c.204+5C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +4 more	GBenign/Likely benign
Select item 679824	NM_001159699.2(FHL1):c.205-57C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513356	NM_001159699.2(FHL1):c.205-9G>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 500095	NM_001159699.2(FHL1):c.225C>A (p.Arg75=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 807821	NM_001159699.2(FHL1):c.248G>A (p.Arg83His)	FHL1 (R96H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 289682	NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)	FHL1 (C71* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1312609	NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)	FHL1 (N101K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 239007	NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)	FHL1 (R95W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 497860	NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)	FHL1 (G103V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 679010	NM_001159699.2(FHL1):c.380-73G>C	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679011	NM_001159699.2(FHL1):c.380-49C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680386	NM_001159699.2(FHL1):c.380-7T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 647258	NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)	FHL1 (K147E +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +6 more	GUncertain significance
Select item 956396	NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)	FHL1 (G119A +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 285074	NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)	FHL1 (V121I +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 11547	NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)	FHL1 (W122S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1219039	NM_001159699.2(FHL1):c.421G>T (p.Asp141Tyr)	FHL1 (D125Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 239008	NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)	FHL1 (S130G +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 598558	NM_001159699.2(FHL1):c.447G>A (p.Lys149=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 286494	NM_001159699.2(FHL1):c.456C>T (p.Ile152=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 1023616	NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg)	FHL1 (G137R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 239009	NM_001159699.2(FHL1):c.489C>T (p.Asp163=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +4 more	GBenign/Likely benign
Select item 284513	NM_001159699.2(FHL1):c.498C>T (p.Cys166=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 391631	NM_001159699.2(FHL1):c.519G>A (p.Lys173=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 422314	NM_001159699.2(FHL1):c.525del (p.Lys176fs)	FHL1 (K189fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 286484	NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)	FHL1 (C162W +2 more)	Single nucleotide variant (missense variant +1 more)	FHL1-related disorder +3 more	GUncertain significance
Select item 432741	NM_001159699.2(FHL1):c.536T>G (p.Val179Gly)	FHL1 (V163G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 511866	NM_001159699.2(FHL1):c.537G>C (p.Val179=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 512885	NM_001159699.2(FHL1):c.549+5G>A	FHL1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 512175	NM_001159699.2(FHL1):c.549+7T>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 674491	NM_001159699.2(FHL1):c.549+64C>T	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680185	NM_001159699.2(FHL1):c.549+130G>A	FHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507218	NM_001159699.2(FHL1):c.550-15C>A	FHL1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 426590	NM_001159699.2(FHL1):c.593A>G (p.His198Arg)	FHL1 (H182R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3340316	NM_001159699.2(FHL1):c.604T>C (p.Phe202Leu)	FHL1 (F186L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 513436	NM_001159699.2(FHL1):c.618C>G (p.Thr206=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1302064	NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp)	FHL1 (C191W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 285237	NM_001159699.2(FHL1):c.644G>A (p.Arg215His)	FHL1 (R199H +2 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, reducing body, X-linked, early-onset, severe +6 more	GUncertain significance
Select item 390927	NM_001159699.2(FHL1):c.651C>T (p.Thr217=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 537351	NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	FHL1 (D205fs +2 more)	Duplication (frameshift variant +2 more)	X-linked myopathy with postural muscle atrophy +1 more	GPathogenic/Likely pathogenic
Select item 512263	NM_001159699.2(FHL1):c.736+8A>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 508872	NM_001159699.2(FHL1):c.736+14T>C	FHL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385723	NM_001159699.2(FHL1):c.736+18T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 1209003	NM_001159699.2(FHL1):c.736+124T>C	FHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188138	NM_001159699.2(FHL1):c.736+438dup	FHL1	Duplication (intron variant)	not provided	GLikely benign
Select item 1328910	NM_001159702.3(FHL1):c.783del (p.Ser262fs)	FHL1 (S262fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3367953	NM_001159702.3(FHL1):c.785G>C (p.Ser262Thr)	FHL1 (S262T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391709	NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)	FHL1 (R266Q)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 1311363	NM_001159702.3(FHL1):c.833C>T (p.Ser278Leu)	FHL1 (S278L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505924	NM_001159702.3(FHL1):c.863G>A (p.Arg288Gln)	FHL1 (R288Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 288405	NM_001159699.2(FHL1):c.737-9del	FHL1	Deletion (intron variant)	X-linked myopathy with postural muscle atrophy +2 more	GConflicting classifications of pathogenicity
Select item 512599	NM_001159699.2(FHL1):c.737-14T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GLikely benign
Select item 198464	NM_001159699.2(FHL1):c.737-13T>C	FHL1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 391549	NM_001159699.2(FHL1):c.737-9T>C	FHL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 198466	NM_001159699.2(FHL1):c.737-8C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +6 more	GBenign
Select item 198465	NM_001159699.2(FHL1):c.737-3del	FHL1	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 513845	NM_001159699.2(FHL1):c.737-5C>A	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +1 more	GBenign/Likely benign
Select item 239012	NM_001159699.2(FHL1):c.786C>T (p.His262=)	FHL1 (T313M +2 more)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 391178	NM_001159699.2(FHL1):c.789C>T (p.Asp263=)	FHL1 (T314I +2 more)	Single nucleotide variant (synonymous variant +2 more)	X-linked myopathy with postural muscle atrophy +2 more	GLikely benign
Select item 392822	NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)	FHL1 (T315I +2 more)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 222635	NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)	FHL1 (A322P +5 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +3 more	GPathogenic/Likely pathogenic
Select item 222636	NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp)	FHL1 (A322G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 838540	NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)	FHL1 (V273L +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 509345	NM_001159699.2(FHL1):c.855G>A (p.Glu285=)	FHL1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 1007647	NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)	FHL1 (Y272F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 239013	NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)	FHL1 (D275N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
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

<< First< Prev

Page of 2