LOC130058620[gene] - ClinVar - NCBI

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Items: 18

	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 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
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 3336045	NM_001376256.1(CRYM):c.166del (p.Arg56fs)	LOC130058620, CRYM (R56fs)	Deletion (frameshift variant)	not specified	GUncertain significance
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
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 1804934	NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)	CRYM, LOC130058620 (A10G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40	GUncertain significance
Select item 1398168	NM_001376256.1(CRYM):c.10G>T (p.Val4Leu)	CRYM, LOC130058620 (V4L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +1 more	GUncertain significance
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