"Ambry Genetics"[submitter] AND "SYN2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2262376	NM_133625.6(SYN2):c.547G>A (p.Val183Met)	SYN2 (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237597	NM_133625.6(SYN2):c.608T>C (p.Ile203Thr)	SYN2 (I203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323881	NM_133625.6(SYN2):c.703A>G (p.Ile235Val)	SYN2 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589963	NM_133625.6(SYN2):c.721G>A (p.Gly241Arg)	SYN2 (G241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383584	NM_133625.6(SYN2):c.743A>G (p.Glu248Gly)	SYN2 (E248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382537	NM_003256.4(TIMP4):c.664G>A (p.Val222Ile)	SYN2, TIMP4 (V222I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3177584	NM_003256.4(TIMP4):c.602T>C (p.Val201Ala)	SYN2, TIMP4 (V201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466134	NM_003256.4(TIMP4):c.593T>C (p.Met198Thr)	SYN2, TIMP4 (M198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516358	NM_003256.4(TIMP4):c.574G>A (p.Ala192Thr)	SYN2, TIMP4 (A192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177583	NM_003256.4(TIMP4):c.491A>G (p.Tyr164Cys)	SYN2, TIMP4 (Y164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619709	NM_003256.4(TIMP4):c.439A>G (p.Ser147Gly)	SYN2, TIMP4 (S147G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467118	NM_003256.4(TIMP4):c.433A>G (p.Arg145Gly)	SYN2, TIMP4 (R145G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592763	NM_003256.4(TIMP4):c.403G>A (p.Glu135Lys)	SYN2, TIMP4 (E135K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364519	NM_003256.4(TIMP4):c.400A>G (p.Ile134Val)	SYN2, TIMP4 (I134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262987	NM_003256.4(TIMP4):c.393C>G (p.Cys131Trp)	SYN2, TIMP4 (C131W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473242	NM_003256.4(TIMP4):c.383T>G (p.Ile128Ser)	SYN2, TIMP4 (I128S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269776	NM_003256.4(TIMP4):c.348G>C (p.Leu116Phe)	SYN2, TIMP4 (L116F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177582	NM_003256.4(TIMP4):c.284C>T (p.Thr95Met)	SYN2, TIMP4 (T95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277647	NM_003256.4(TIMP4):c.161G>A (p.Ser54Asn)	SYN2, TIMP4 (S54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591632	NM_003256.4(TIMP4):c.131C>T (p.Ser44Leu)	SYN2, TIMP4 (S44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337012	NM_003256.4(TIMP4):c.125G>A (p.Cys42Tyr)	SYN2, TIMP4 (C42Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458370	NM_003256.4(TIMP4):c.122T>C (p.Ile41Thr)	SYN2, TIMP4 (I41T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177581	NM_003256.4(TIMP4):c.113A>G (p.Gln38Arg)	SYN2, TIMP4 (Q38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603227	NM_003256.4(TIMP4):c.97G>A (p.Ala33Thr)	SYN2, TIMP4 (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598014	NM_003256.4(TIMP4):c.71C>A (p.Pro24Gln)	SYN2, TIMP4 (P24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514331	NM_003256.4(TIMP4):c.71C>T (p.Pro24Leu)	SYN2, TIMP4 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254384	NM_003256.4(TIMP4):c.53T>C (p.Leu18Pro)	SYN2, TIMP4 (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333608	NM_003256.4(TIMP4):c.52C>G (p.Leu18Val)	SYN2, TIMP4 (L18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172648	NM_133625.6(SYN2):c.797T>G (p.Val266Gly)	SYN2 (V266G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318906	NM_133625.6(SYN2):c.851A>G (p.Asn284Ser)	SYN2 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223366	NM_133625.6(SYN2):c.908C>T (p.Thr303Ile)	SYN2 (T303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172649	NM_133625.6(SYN2):c.943C>T (p.Arg315Trp)	SYN2 (R315W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172645	NM_133625.6(SYN2):c.1047G>A (p.Met349Ile)	SYN2 (M349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220412	NM_133625.6(SYN2):c.1096G>A (p.Gly366Ser)	SYN2 (G366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323883	NM_133625.6(SYN2):c.1126C>T (p.His376Tyr)	SYN2 (H376Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323882	NM_133625.6(SYN2):c.1355G>A (p.Arg452Gln)	SYN2 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254555	NM_133625.6(SYN2):c.1363C>A (p.Pro455Thr)	SYN2 (P455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172646	NM_133625.6(SYN2):c.1411G>T (p.Val471Leu)	LOC129936166, SYN2 (V471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394950	NM_133625.6(SYN2):c.1426C>T (p.Arg476Trp)	LOC129936166, SYN2 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460416	NM_133625.6(SYN2):c.1481C>T (p.Ser494Phe)	LOC129936166, SYN2 (S494F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343741	NM_133625.6(SYN2):c.1499G>T (p.Arg500Leu)	SYN2 (R500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593554	NM_133625.6(SYN2):c.1502C>T (p.Pro501Leu)	SYN2 (P501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323884	NM_133625.6(SYN2):c.1519C>G (p.His507Asp)	SYN2 (H507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209533	NM_133625.6(SYN2):c.1522G>A (p.Gly508Arg)	SYN2 (G508R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172647	NM_133625.6(SYN2):c.1639T>G (p.Phe547Val)	SYN2 (F547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515791	NM_133625.6(SYN2):c.1666C>T (p.Arg556Trp)	SYN2 (R556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373112	NM_133625.6(SYN2):c.1670C>G (p.Ser557Cys)	SYN2 (S557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 47