Related gene-specific medical variations for Gene (Select 92105) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2231993	NM_033547.4(INTS4):c.2338C>G (p.Leu780Val)	AAMDC, INTS4 (L780V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 28