AAMDC[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 2551413	NM_024684.4(AAMDC):c.53G>C (p.Gly18Ala)	AAMDC, RSF1 (G18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261216	NM_024684.4(AAMDC):c.181G>C (p.Gly61Arg)	RSF1, AAMDC (G61R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315951	NM_033547.4(INTS4):c.2851C>G (p.Pro951Ala)	AAMDC, INTS4 (P951A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388370	NM_033547.4(INTS4):c.2822G>A (p.Ser941Asn)	AAMDC, INTS4 (S941N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297524	NM_033547.4(INTS4):c.2765G>T (p.Arg922Leu)	AAMDC, INTS4 (R922L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513801	NM_033547.4(INTS4):c.2725G>C (p.Val909Leu)	AAMDC, INTS4 (V909L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488956	NM_033547.4(INTS4):c.2576A>T (p.Asn859Ile)	AAMDC, INTS4 (N859I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514727	NM_033547.4(INTS4):c.2483C>T (p.Ala828Val)	AAMDC, INTS4 (A828V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406424	NM_033547.4(INTS4):c.2449A>G (p.Ile817Val)	AAMDC, INTS4 (I817V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380078	NM_033547.4(INTS4):c.2365A>G (p.Thr789Ala)	AAMDC, INTS4 (T789A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591484	NM_033547.4(INTS4):c.2357G>A (p.Arg786Gln)	AAMDC, INTS4 (R786Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548533	NM_033547.4(INTS4):c.2354C>T (p.Pro785Leu)	AAMDC, INTS4 (P785L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231993	NM_033547.4(INTS4):c.2338C>G (p.Leu780Val)	AAMDC, INTS4 (L780V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359544	NM_033547.4(INTS4):c.2299G>A (p.Ala767Thr)	AAMDC, INTS4 (A767T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597275	NM_033547.4(INTS4):c.2278T>C (p.Phe760Leu)	AAMDC, INTS4 (F760L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642194	NM_033547.4(INTS4):c.2228+851C>T	AAMDC, INTS4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign
Select item 2642195	NM_033547.4(INTS4):c.2091G>A (p.Ala697=)	AAMDC, INTS4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2685050	GRCh37/hg19 11q14.1(chr11:77541456-77832469)x4	AAMDC, ALG8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684649	GRCh37/hg19 11q14.1(chr11:77410576-77785957)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527652	GRCh37/hg19 11q14.1(chr11:77415541-77785783)	AAMDC, INTS4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980957	GRCh37/hg19 11q14.1(chr11:77575261-77902589)x3	AAMDC, ALG8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688702	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688177	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563857	GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3	PAK1, AQP11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 32