AAMDC[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	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	LOC130006570, LOC130006571 +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)	not specified	GUncertain significance
Select item 3260658	NM_024684.4(AAMDC):c.140C>T (p.Pro47Leu)	AAMDC, RSF1 (P93L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261216	NM_024684.4(AAMDC):c.181G>C (p.Gly61Arg)	AAMDC, RSF1 (G61R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286231	NM_033547.4(INTS4):c.2878C>A (p.Pro960Thr)	AAMDC, INTS4 (P960T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315951	NM_033547.4(INTS4):c.2851C>G (p.Pro951Ala)	AAMDC, INTS4 (P951A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388370	NM_033547.4(INTS4):c.2822G>A (p.Ser941Asn)	AAMDC, INTS4 (S941N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110188	NM_033547.4(INTS4):c.2777G>A (p.Cys926Tyr)	AAMDC, INTS4 (C926Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297524	NM_033547.4(INTS4):c.2765G>T (p.Arg922Leu)	AAMDC, INTS4 (R922L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286234	NM_033547.4(INTS4):c.2764C>T (p.Arg922Cys)	AAMDC, INTS4 (R922C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513801	NM_033547.4(INTS4):c.2725G>C (p.Val909Leu)	AAMDC, INTS4 (V909L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286238	NM_033547.4(INTS4):c.2692C>T (p.Leu898Phe)	AAMDC, INTS4 (L898F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110187	NM_033547.4(INTS4):c.2672G>A (p.Arg891Gln)	AAMDC, INTS4 (R891Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488956	NM_033547.4(INTS4):c.2576A>T (p.Asn859Ile)	AAMDC, INTS4 (N859I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286236	NM_033547.4(INTS4):c.2548A>G (p.Thr850Ala)	AAMDC, INTS4 (T850A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110186	NM_033547.4(INTS4):c.2506C>T (p.Arg836Trp)	AAMDC, INTS4 (R836W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514727	NM_033547.4(INTS4):c.2483C>T (p.Ala828Val)	AAMDC, INTS4 (A828V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110185	NM_033547.4(INTS4):c.2452C>T (p.His818Tyr)	AAMDC, INTS4 (H818Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406424	NM_033547.4(INTS4):c.2449A>G (p.Ile817Val)	AAMDC, INTS4 (I817V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286241	NM_033547.4(INTS4):c.2411G>A (p.Arg804Gln)	AAMDC, INTS4 (R804Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110184	NM_033547.4(INTS4):c.2390A>G (p.Lys797Arg)	AAMDC, INTS4 (K797R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380078	NM_033547.4(INTS4):c.2365A>G (p.Thr789Ala)	AAMDC, INTS4 (T789A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591484	NM_033547.4(INTS4):c.2357G>A (p.Arg786Gln)	AAMDC, INTS4 (R786Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548533	NM_033547.4(INTS4):c.2354C>T (p.Pro785Leu)	AAMDC, INTS4 (P785L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110183	NM_033547.4(INTS4):c.2353C>T (p.Pro785Ser)	AAMDC, INTS4 (P785S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231993	NM_033547.4(INTS4):c.2338C>G (p.Leu780Val)	AAMDC, INTS4 (L780V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359544	NM_033547.4(INTS4):c.2299G>A (p.Ala767Thr)	AAMDC, INTS4 (A767T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597275	NM_033547.4(INTS4):c.2278T>C (p.Phe760Leu)	AAMDC, INTS4 (F760L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286237	NM_033547.4(INTS4):c.2275G>T (p.Asp759Tyr)	AAMDC, INTS4 (D759Y)	Single nucleotide variant (missense variant +1 more)	not specified	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 3110181	NM_033547.4(INTS4):c.2130G>A (p.Met710Ile)	AAMDC, INTS4 (M710I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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	MAML2, MAP3K11 +955 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	MMP13, MMP20 +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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46