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

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316267	NM_001376256.1(CRYM):c.*113A>G	CRYM	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1328630	NM_001376256.1(CRYM):c.881-30A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283744	NM_001376256.1(CRYM):c.881-115T>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178401	NM_001376256.1(CRYM):c.880+264C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274122	NM_001376256.1(CRYM):c.880+210A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318953	NM_001376256.1(CRYM):c.880+38C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44241	NM_001376256.1(CRYM):c.864C>G (p.Thr288=)	CRYM	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 1272764	NM_001376256.1(CRYM):c.820G>C (p.Glu274Gln)	CRYM (E274Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 178330	NM_001376256.1(CRYM):c.807T>C (p.Phe269=)	CRYM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1241911	NM_001376256.1(CRYM):c.796-126dup	CRYM	Duplication (intron variant)	not provided	GBenign
Select item 1269651	NM_001376256.1(CRYM):c.795+266G>A	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239427	NM_001376256.1(CRYM):c.795+169C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232127	NM_001376256.1(CRYM):c.795+72T>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317752	NM_001376256.1(CRYM):c.762C>T (p.Ala254=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 179999	NM_001376256.1(CRYM):c.761C>T (p.Ala254Val)	CRYM (A254V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GConflicting classifications of pathogenicity
Select item 163002	NM_001376256.1(CRYM):c.741C>T (p.Tyr247=)	CRYM	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 1282964	NM_001376256.1(CRYM):c.674-42G>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260298	NM_001376256.1(CRYM):c.673+241C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316234	NM_001376256.1(CRYM):c.673+54G>C	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 785526	NM_001376256.1(CRYM):c.524A>T (p.Glu175Val)	CRYM (E175V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +1 more	GLikely benign
Select item 179644	NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)	CRYM (E175L)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 785527	NM_001376256.1(CRYM):c.523G>T (p.Glu175Ter)	CRYM (E175*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 741089	NM_001376256.1(CRYM):c.490-9C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44240	NM_001376256.1(CRYM):c.490-12C>T	CRYM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 682991	NM_001376256.1(CRYM):c.490-86C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230682	NM_001376256.1(CRYM):c.489+337A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228741	NM_001376256.1(CRYM):c.489+38G>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242546	NM_001376256.1(CRYM):c.489+20T>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236483	NM_001376256.1(CRYM):c.489+14T>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508135	NM_001376256.1(CRYM):c.489+9A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512030	NM_001376256.1(CRYM):c.480C>T (p.Ser160=)	CRYM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 546159	NM_001376256.1(CRYM):c.479C>T (p.Ser160Phe)	CRYM (S160F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498287	NM_001376256.1(CRYM):c.474G>A (p.Gln158=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1317155	NM_001376256.1(CRYM):c.444C>T (p.Ala148=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316209	NM_001376256.1(CRYM):c.388-52C>G	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245302	NM_001376256.1(CRYM):c.388-253T>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182209	NM_001376256.1(CRYM):c.387+154G>A	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 179476	NM_001376256.1(CRYM):c.343A>G (p.Ile115Val)	CRYM (I115V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44237	NM_001376256.1(CRYM):c.325-12T>C	CRYM	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 1296886	NM_001376256.1(CRYM):c.325-162G>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246500	NM_001376256.1(CRYM):c.325-263C>G	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181487	NM_001376256.1(CRYM):c.324+101G>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682990	NM_001376256.1(CRYM):c.171-99G>A	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243573	NM_001376256.1(CRYM):c.171-118C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237701	NM_001376256.1(CRYM):c.171-229T>C	CRYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317508	NM_001376256.1(CRYM):c.170+46G>A	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320575	NM_001376256.1(CRYM):c.170+28C>G	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668622	NM_001376256.1(CRYM):c.168G>C (p.Arg56Ser)	CRYM, LOC130058620 (R56S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 178331	NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg)	CRYM, LOC130058620 (S36R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1318110	NM_001376256.1(CRYM):c.75G>A (p.Pro25=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317800	NM_001376256.1(CRYM):c.63C>T (p.Ser21=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 289303	NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu)	CRYM, LOC130058620 (R3L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1282577	NM_001888.5(CRYM):c.-54G>C	CRYM	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 682307	NM_001888.5(CRYM):c.-85-4A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 54