LAMA5-AS1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1225849	NM_005560.6(LAMA5):c.568+122G>A	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1259215	NM_005560.6(LAMA5):c.568+87G>A	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1898328	NM_005560.6(LAMA5):c.568+17G>T	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2712287	NM_005560.6(LAMA5):c.568+15C>T	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1987979	NM_005560.6(LAMA5):c.568+14G>A	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2182178	NM_005560.6(LAMA5):c.558G>A (p.Gln186=)	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 3117531	NM_005560.6(LAMA5):c.556C>A (p.Gln186Lys)	LAMA5, LAMA5-AS1 (Q186K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636780	NM_005560.6(LAMA5):c.536G>A (p.Gly179Asp)	LAMA5, LAMA5-AS1 (G179D)	Single nucleotide variant (non-coding transcript variant +1 more)	LAMA5-related disorder	GUncertain significance
Select item 2715976	NM_005560.6(LAMA5):c.534C>T (p.Phe178=)	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2320139	NM_005560.6(LAMA5):c.521G>A (p.Arg174Gln)	LAMA5, LAMA5-AS1 (R174Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714830	NM_005560.6(LAMA5):c.501G>A (p.Pro167=)	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2051192	NM_005560.6(LAMA5):c.454T>C (p.Phe152Leu)	LAMA5, LAMA5-AS1 (F152L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2967253	NM_005560.6(LAMA5):c.451-17G>A	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3023183	NM_005560.6(LAMA5):c.451-18C>T	LAMA5, LAMA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 23