18445[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 441017	NM_033429.3(CALML4):c.454del (p.Asp152fs)	CALML4 (D119fs +3 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 3136748	NM_033429.3(CALML4):c.391A>C (p.Ile131Leu)	CALML4 (I131L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256247	NM_033429.3(CALML4):c.389A>G (p.Asp130Gly)	CALML4 (D130G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595424	NM_033429.3(CALML4):c.301G>A (p.Val101Ile)	CALML4 (V29I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262991	NM_033429.3(CALML4):c.280G>A (p.Asp94Asn)	CALML4 (D94N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262987	NM_033429.3(CALML4):c.269T>C (p.Met90Thr)	CALML4 (M18T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262740	NM_033429.3(CALML4):c.262C>G (p.Leu88Val)	CALML4 (L41V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511583	NM_033429.3(CALML4):c.235C>G (p.Gln79Glu)	CALML4 (Q79E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262990	NM_033429.3(CALML4):c.203C>T (p.Thr68Ile)	CALML4 (T35I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311501	NM_033429.3(CALML4):c.164C>G (p.Thr55Ser)	CALML4 (T22S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280148	NM_033429.3(CALML4):c.149A>G (p.Gln50Arg)	CALML4 (Q17R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524351	NM_033429.3(CALML4):c.-23C>G	CALML4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3262988	NM_033429.3(CALML4):c.-69G>A	CALML4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1340344	GRCh37/hg19 15q23(chr15:68243109-68780504)x1	CALML4, CLN6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 29