LIMD1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323697	NM_014240.3(LIMD1):c.23G>A (p.Gly8Asp)	LIMD1 (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483858	NM_014240.3(LIMD1):c.58A>G (p.Met20Val)	LIMD1 (M20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290744	NM_014240.3(LIMD1):c.60G>A (p.Met20Ile)	LIMD1 (M20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602069	NM_014240.3(LIMD1):c.97A>C (p.Lys33Gln)	LIMD1 (K33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118873	NM_014240.3(LIMD1):c.266G>A (p.Arg89His)	LIMD1 (R89H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602068	NM_014240.3(LIMD1):c.283A>T (p.Ser95Cys)	LIMD1 (S95C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530962	NM_014240.3(LIMD1):c.317C>T (p.Pro106Leu)	LIMD1 (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481582	NM_014240.3(LIMD1):c.340C>T (p.Pro114Ser)	LIMD1 (P114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118874	NM_014240.3(LIMD1):c.343G>A (p.Gly115Arg)	LIMD1 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118875	NM_014240.3(LIMD1):c.377C>T (p.Pro126Leu)	LIMD1 (P126L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542424	NM_014240.3(LIMD1):c.458G>A (p.Ser153Asn)	LIMD1 (S153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472830	NM_014240.3(LIMD1):c.524C>T (p.Thr175Ile)	LIMD1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531851	NM_014240.3(LIMD1):c.571G>A (p.Gly191Ser)	LIMD1 (G191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255767	NM_014240.3(LIMD1):c.590C>T (p.Ser197Phe)	LIMD1 (S197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118876	NM_014240.3(LIMD1):c.619G>A (p.Gly207Arg)	LIMD1 (G207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290747	NM_014240.3(LIMD1):c.635C>G (p.Pro212Arg)	LIMD1 (P212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365639	NM_014240.3(LIMD1):c.635C>T (p.Pro212Leu)	LIMD1 (P212L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407254	NM_014240.3(LIMD1):c.667G>A (p.Gly223Arg)	LIMD1 (G223R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323544	NM_014240.3(LIMD1):c.736G>A (p.Gly246Ser)	LIMD1 (G246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118878	NM_014240.3(LIMD1):c.743A>G (p.Asn248Ser)	LIMD1 (N248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455288	NM_014240.3(LIMD1):c.758G>A (p.Gly253Asp)	LIMD1 (G253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290745	NM_014240.3(LIMD1):c.809G>A (p.Arg270Gln)	LIMD1 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570304	NM_014240.3(LIMD1):c.904G>A (p.Ala302Thr)	LIMD1 (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342117	NM_014240.3(LIMD1):c.1027T>A (p.Ser343Thr)	LIMD1 (S343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118870	NM_014240.3(LIMD1):c.1058C>T (p.Ser353Leu)	LIMD1 (S353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118871	NM_014240.3(LIMD1):c.1109C>T (p.Pro370Leu)	LIMD1 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785047	NM_014240.3(LIMD1):c.1260C>T (p.Asp420=)	LIMD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290746	NM_014240.3(LIMD1):c.1261A>C (p.Ser421Arg)	LIMD1 (S421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318778	NM_014240.3(LIMD1):c.1279G>A (p.Val427Ile)	LIMD1 (V427I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406145	NM_014240.3(LIMD1):c.1391C>T (p.Pro464Leu)	LIMD1 (P464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709851	NM_014240.3(LIMD1):c.1394A>G (p.Lys465Arg)	LIMD1 (K465R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3290743	NM_014240.3(LIMD1):c.1685G>A (p.Arg562His)	LIMD1 (R562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118872	NM_014240.3(LIMD1):c.1713T>G (p.Asp571Glu)	LIMD1 (D571E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477297	NM_014240.3(LIMD1):c.1733A>T (p.Asp578Val)	LIMD1 (D578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401638	NM_014240.3(LIMD1):c.1844G>A (p.Arg615His)	LIMD1 (R615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381467	NM_014240.3(LIMD1):c.1873G>C (p.Val625Leu)	LIMD1 (V625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350776	NM_014240.3(LIMD1):c.1913A>G (p.Asn638Ser)	LIMD1 (N638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533763	NM_014240.3(LIMD1):c.1919A>G (p.Glu640Gly)	LIMD1 (E640G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366124	NM_014240.3(LIMD1):c.1975G>A (p.Val659Met)	LIMD1 (V659M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548862	NM_014240.3(LIMD1):c.2024A>G (p.His675Arg)	LIMD1 (H675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1809111	GRCh37/hg19 3p21.31(chr3:45648926-45699671)x1	LIMD1	Copy number loss	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 47