CRYM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 1316267	NM_001376256.1(CRYM):c.*113A>G	CRYM	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3058056	NM_001376256.1(CRYM):c.3_6del (p.Ter315=)	CRYM	Deletion (no sequence alteration)	CRYM-related disorder	GLikely benign
Select item 16934	NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr)	CRYM	Single nucleotide variant (stop lost)	Autosomal dominant nonsyndromic hearing loss 40	GPathogenic
Select item 996876	NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln)	CRYM	Single nucleotide variant (stop lost)	Autosomal dominant nonsyndromic hearing loss 40	GUncertain significance
Select item 16935	NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr)	CRYM (K314T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40	GPathogenic
Select item 2790611	NM_001376256.1(CRYM):c.916A>G (p.Ile306Val)	CRYM (I306V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163000	NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr)	CRYM (A303T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GUncertain significance
Select item 2555131	NM_001376256.1(CRYM):c.890T>C (p.Val297Ala)	CRYM (V297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480663	NM_001376256.1(CRYM):c.885G>T (p.Met295Ile)	CRYM (M295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not provided +2 more	GBenign
Select item 2218061	NM_001376256.1(CRYM):c.835G>T (p.Val279Leu)	CRYM (V279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2830258	NM_001376256.1(CRYM):c.833G>A (p.Gly278Glu)	CRYM (G278E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272764	NM_001376256.1(CRYM):c.820G>C (p.Glu274Gln)	CRYM (E274Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 178330	NM_001376256.1(CRYM):c.807T>C (p.Phe269=)	CRYM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2168554	NM_001376256.1(CRYM):c.798C>T (p.Ala266=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3029841	NM_001376256.1(CRYM):c.778G>C (p.Asp260His)	CRYM (D260H)	Single nucleotide variant (missense variant)	CRYM-related disorder	GUncertain significance
Select item 2901816	NM_001376256.1(CRYM):c.767A>G (p.Lys256Arg)	CRYM (K256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1493514	NM_001376256.1(CRYM):c.742G>A (p.Val248Met)	CRYM (V248M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1950699	NM_001376256.1(CRYM):c.712G>T (p.Asp238Tyr)	CRYM (D238Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967931	NM_001376256.1(CRYM):c.679G>T (p.Gly227Ter)	CRYM (G227*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2835639	NM_001376256.1(CRYM):c.674-7C>T	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 227278	NM_001376256.1(CRYM):c.662C>T (p.Ala221Val)	CRYM (A221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 594206	NM_001376256.1(CRYM):c.580G>A (p.Ala194Thr)	CRYM (A194T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573129	NM_001376256.1(CRYM):c.555A>G (p.Val185=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021096	NM_001376256.1(CRYM):c.533C>A (p.Ala178Glu)	CRYM (A178E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +2 more	GBenign/Likely 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)	CRYM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2746850	NM_001376256.1(CRYM):c.501G>A (p.Trp167Ter)	CRYM (W167*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2810057	NM_001376256.1(CRYM):c.485A>G (p.Lys162Arg)	CRYM (K162R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	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 2144479	NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)	CRYM (I141V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3077926	NM_001376256.1(CRYM):c.396A>C (p.Lys132Asn)	CRYM (K132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1543587	NM_001376256.1(CRYM):c.387+8G>T	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915718	NM_001376256.1(CRYM):c.387+4A>G	CRYM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3034801	NM_001376256.1(CRYM):c.360A>G (p.Thr120=)	CRYM	Single nucleotide variant (synonymous variant)	CRYM-related disorder	GLikely benign
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)	not specified +2 more	GBenign
Select item 1632848	NM_001376256.1(CRYM):c.325-19G>C	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1438211	NM_001376256.1(CRYM):c.284C>G (p.Thr95Ser)	CRYM (T95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227277	NM_001376256.1(CRYM):c.279G>A (p.Gln93=)	CRYM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2257098	NM_001376256.1(CRYM):c.266T>A (p.Val89Asp)	CRYM (V89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581040	NM_001376256.1(CRYM):c.251G>A (p.Gly84Asp)	CRYM (G84D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40	GUncertain significance
Select item 3006981	NM_001376256.1(CRYM):c.247C>T (p.Arg83Cys)	CRYM (R83C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657270	NM_001376256.1(CRYM):c.226T>C (p.Leu76=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916913	NM_001376256.1(CRYM):c.214C>G (p.Leu72Val)	CRYM (L72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970776	NM_001376256.1(CRYM):c.198T>C (p.Ser66=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870480	NM_001376256.1(CRYM):c.195C>T (p.Tyr65=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638874	NM_001376256.1(CRYM):c.192C>T (p.Ala64=)	CRYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1953644	NM_001376256.1(CRYM):c.170+16C>A	CRYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1350141	NM_001376256.1(CRYM):c.168G>T (p.Arg56Ser)	CRYM, LOC130058620 (R56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3077925	NM_001376256.1(CRYM):c.162G>C (p.Lys54Asn)	CRYM, LOC130058620 (K54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520108	NM_001376256.1(CRYM):c.157A>G (p.Thr53Ala)	CRYM, LOC130058620 (T53A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2715040	NM_001376256.1(CRYM):c.144C>G (p.Thr48=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545786	NM_001376256.1(CRYM):c.136G>T (p.Val46Leu)	CRYM, LOC130058620 (V46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 439560	NM_001376256.1(CRYM):c.135C>A (p.Pro45=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077924	NM_001376256.1(CRYM):c.131A>G (p.Gln44Arg)	CRYM, LOC130058620 (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1625806	NM_001376256.1(CRYM):c.75G>T (p.Pro25=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318110	NM_001376256.1(CRYM):c.75G>A (p.Pro25=)	CRYM, LOC130058620	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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