INTS4[gene] - ClinVar

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Items: 72

	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 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 2332777	NM_033547.4(INTS4):c.1994G>A (p.Arg665His)	INTS4 (R665H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286230	NM_033547.4(INTS4):c.1954G>C (p.Glu652Gln)	INTS4 (E652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286232	NM_033547.4(INTS4):c.1923G>A (p.Arg641=)	INTS4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2525526	NM_033547.4(INTS4):c.1865A>G (p.Tyr622Cys)	INTS4 (Y622C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110180	NM_033547.4(INTS4):c.1747C>T (p.Leu583Phe)	INTS4 (L583F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110179	NM_033547.4(INTS4):c.1600A>G (p.Thr534Ala)	INTS4 (T534A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310545	NM_033547.4(INTS4):c.1588C>T (p.Pro530Ser)	INTS4 (P530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297091	NM_033547.4(INTS4):c.1510T>C (p.Trp504Arg)	INTS4 (W504R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110178	NM_033547.4(INTS4):c.1507A>G (p.Ile503Val)	INTS4 (I503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768468	NM_033547.4(INTS4):c.1428T>G (p.Val476=)	INTS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398404	NM_033547.4(INTS4):c.1352C>T (p.Thr451Ile)	INTS4 (T451I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512333	NM_033547.4(INTS4):c.1324A>G (p.Ile442Val)	INTS4 (I442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286233	NM_033547.4(INTS4):c.1279G>C (p.Val427Leu)	INTS4 (V427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552091	NM_033547.4(INTS4):c.1159A>T (p.Met387Leu)	INTS4 (M387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110193	NM_033547.4(INTS4):c.978G>A (p.Met326Ile)	INTS4 (M326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493622	NM_033547.4(INTS4):c.868A>G (p.Met290Val)	INTS4 (M290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286239	NM_033547.4(INTS4):c.857A>C (p.Lys286Thr)	INTS4 (K286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517011	NM_033547.4(INTS4):c.815C>T (p.Ser272Phe)	INTS4 (S272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286235	NM_033547.4(INTS4):c.762G>C (p.Gln254His)	INTS4 (Q254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402487	NM_033547.4(INTS4):c.746G>A (p.Arg249His)	INTS4 (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110191	NM_033547.4(INTS4):c.719T>C (p.Leu240Ser)	INTS4 (L240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110190	NM_033547.4(INTS4):c.699T>G (p.Ile233Met)	INTS4 (I233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110189	NM_033547.4(INTS4):c.668A>G (p.His223Arg)	INTS4 (H223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297626	NM_033547.4(INTS4):c.650A>T (p.Lys217Ile)	INTS4 (K217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297445	NM_033547.4(INTS4):c.628C>G (p.Arg210Gly)	INTS4 (R210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356017	NM_033547.4(INTS4):c.596T>C (p.Ile199Thr)	INTS4 (I199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239640	NM_033547.4(INTS4):c.488C>T (p.Ser163Phe)	INTS4 (S163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526771	NM_033547.4(INTS4):c.371A>G (p.His124Arg)	INTS4 (H124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375169	NM_033547.4(INTS4):c.205G>A (p.Val69Ile)	INTS4 (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1177498	GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3	INTS4, KCTD14 +3 more	Copy number gain	not provided	Gnot provided
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 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

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Items: 72