LOC130063648[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 208277	NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)	LOC130063648, MAN2B1 (R916C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 546171	NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)	MAN2B1, LOC130063648 (L915P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GConflicting classifications of pathogenicity
Select item 1714489	NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)	LOC130063648, MAN2B1 (L913M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2864683	NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)	LOC130063648, MAN2B1 (P897fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 1442635	NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)	LOC130063648, MAN2B1 (V912M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2995667	NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)	LOC130063648, MAN2B1 (M912I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 983954	NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)	LOC130063648, MAN2B1 (E910* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 890571	NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)	LOC130063648, MAN2B1 (E910K +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2968932	NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2745664	NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1473514	NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)	LOC130063648, MAN2B1 (G908D +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 983955	NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)	LOC130063648, MAN2B1 (W907* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 839971	NM_000528.4(MAN2B1):c.2437-300_2719del	LOC130063648, LOC130063649 +1 more	Deletion (splice acceptor variant +1 more)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1558700	NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1309730	NM_000528.4(MAN2B1):c.2716G>C (p.Ala906Pro)	LOC130063648, MAN2B1 (A905P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609998	NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1562094	NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3363433	NM_000528.4(MAN2B1):c.2705T>G (p.Leu902Arg)	LOC130063648, MAN2B1 (L901R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996910	NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1395487	NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)	MAN2B1, LOC130063648 (L901V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2789726	NM_000528.4(MAN2B1):c.2703C>T (p.His901=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 328255	NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)	LOC130063648, MAN2B1 (H901N +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance
Select item 1642763	NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2038024	NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1539289	NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1901975	NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)	LOC130063648, MAN2B1 (S899L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 370174	NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	LOC130063648, MAN2B1 (S899* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2755753	NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1146971	NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2859757	NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1104262	NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2044507	NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)	LOC130063648, MAN2B1 (P896L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1131657	NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1597995	NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1943953	NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)	LOC130063648, MAN2B1 (R893G +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1153393	NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1915843	NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)	LOC130063648, MAN2B1 (R892H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance

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Items: 46