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

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317776	NM_001136472.2(LITAF):c.*143C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GBenign
Select item 317777	NM_001136472.2(LITAF):c.*99C>T	LITAF	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GBenign/Likely benign
Select item 221090	NM_001136472.2(LITAF):c.479G>A (p.Arg160His)	LITAF (R160H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 245638	NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)	LITAF (R160C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 1810557	NM_001136472.2(LITAF):c.463C>T (p.Leu155=)	LITAF	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 404112	NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)	LITAF (A153T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 392274	NM_001136472.2(LITAF):c.408C>A (p.Phe136Leu)	LITAF (F136L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 246593	NM_001136472.2(LITAF):c.388G>A (p.Gly130Ser)	LITAF (G130S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1215798	NM_001136472.2(LITAF):c.378-27G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236923	NM_001136472.2(LITAF):c.378-30C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295304	NM_001136472.2(LITAF):c.378-126C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179283	NM_001136472.2(LITAF):c.378-194G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671795	NM_001136472.2(LITAF):c.378-255C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671794	NM_001136472.2(LITAF):c.378-295C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213137	NM_001136472.2(LITAF):c.378-1794G>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183497	NM_001136472.2(LITAF):c.377+1870dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 1224008	NM_001136472.2(LITAF):c.377+1869del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 683086	NM_001136472.2(LITAF):c.377+1859dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 683059	NM_001136472.2(LITAF):c.377+1869G>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194970	NM_001136472.2(LITAF):c.377+1867T>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677273	NM_001136472.2(LITAF):c.377+1763A>G	LITAF (S138G)	Single nucleotide variant (missense variant +1 more)	LITAF-related condition +1 more	GBenign
Select item 677272	NM_001136472.2(LITAF):c.377+1760C>T	LITAF (R137C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 681812	NM_001136472.2(LITAF):c.377+1716C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672580	NM_001136472.2(LITAF):c.377+1685_377+1688dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 1261460	NM_001136472.2(LITAF):c.377+1684_377+1687dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 677271	NM_001136472.2(LITAF):c.377+1686_377+1687insACTC	LITAF	Insertion (intron variant)	not provided	GBenign
Select item 677270	NM_001136472.2(LITAF):c.377+1660G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229250	NM_001136472.2(LITAF):c.377+1652del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1249973	NM_001136472.2(LITAF):c.377+1612del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1243042	NM_001136472.2(LITAF):c.377+1611_377+1612del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 1181496	NM_001136472.2(LITAF):c.377+1594A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222161	NM_001136472.2(LITAF):c.377+1557C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684093	NM_001136472.2(LITAF):c.377+1455A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673457	NM_001136472.2(LITAF):c.377+1435C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218890	NM_001136472.2(LITAF):c.377+297A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671793	NM_001136472.2(LITAF):c.377+279T>G	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209034	NM_001136472.2(LITAF):c.377+261C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317781	NM_001136472.2(LITAF):c.377+13C>G	LITAF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 695951	NM_001136472.2(LITAF):c.357C>T (p.Cys119=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 424023	NM_001136472.2(LITAF):c.352T>C (p.Ser118Pro)	LITAF (S118P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6057	NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	LITAF (G112S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GPathogenic
Select item 221057	NM_001136472.2(LITAF):c.333C>T (p.Ala111=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 1C +4 more	GBenign/Likely benign
Select item 219573	NM_001136472.2(LITAF):c.330C>T (p.Asn110=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 404114	NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)	LITAF (K101R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 317782	NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)	LITAF (I92V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 1309397	NM_001136472.2(LITAF):c.272C>G (p.Pro91Arg)	LITAF (P91R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 245794	NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)	LITAF (P84L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1708914	NM_001136472.2(LITAF):c.249C>A (p.His83Gln)	LITAF (H83Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 317783	NM_001136472.2(LITAF):c.241G>A (p.Val81Met)	LITAF (V81M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 220753	NM_001136472.2(LITAF):c.234G>A (p.Thr78=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +2 more	GBenign
Select item 1221212	NM_001136472.2(LITAF):c.221-131C>T	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218054	NM_001136472.2(LITAF):c.221-147A>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298056	NM_001136472.2(LITAF):c.221-201G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239799	NM_001136472.2(LITAF):c.221-229_221-228del	LITAF	Deletion (intron variant)	not provided	GBenign
Select item 684091	NM_001136472.2(LITAF):c.220+310A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227884	NM_001136472.2(LITAF):c.220+276T>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300339	NM_001136472.2(LITAF):c.220+65T>C	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683058	NM_001136472.2(LITAF):c.220+42C>T	LITAF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 451222	NM_001136472.2(LITAF):c.209A>G (p.Asn70Ser)	LITAF (N70S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 1C +1 more	GUncertain significance
Select item 215840	NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)	LITAF (T49M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1309498	NM_001136472.2(LITAF):c.98A>T (p.Tyr33Phe)	LITAF (Y33F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 464049	NM_001136472.2(LITAF):c.54C>T (p.Ser18=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 381079	NM_001136472.2(LITAF):c.45A>G (p.Ser15=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 317789	NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)	LITAF (S15L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 532706	NM_001136472.2(LITAF):c.27G>A (p.Ala9=)	LITAF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 245923	NM_001136472.2(LITAF):c.3G>A (p.Met1Ile)	LITAF (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 682452	NM_001136472.2(LITAF):c.-5-16T>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202049	NM_001136472.2(LITAF):c.-5-183C>G	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207972	NM_001136472.2(LITAF):c.-5-196T>A	LITAF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684077	NM_001136472.2(LITAF):c.-5-296G>A	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262127	NM_001136472.2(LITAF):c.-5-338dup	LITAF	Duplication (intron variant)	not provided	GBenign
Select item 1243140	NM_001136472.2(LITAF):c.-6+919A>G	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 317790	NM_001136472.2(LITAF):c.-6+681dup	LITAF	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 317792	NM_001136472.2(LITAF):c.-6+594A>G	LITAF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266284	NM_001136472.2(LITAF):c.-6+474T>C	LITAF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223839	NC_000016.10:g.11587004C>G	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1294994	NC_000016.10:g.11587040C>G	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1234269	NC_000016.10:g.11587065C>T	LITAF, LOC130058502	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 152760	GRCh38/hg38 16p13.13(chr16:11606013-11651720)x3	LITAF, LOC112296182 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253820	GRCh37/hg19 16p13.13(chr16:11173868-11681288)x3	PRM2, PRM3 +6 more	Copy number gain	See cases	GUncertain significance

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Items: 80