"Ambry Genetics"[submitter] AND "SUSD1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172241	NM_022486.5(SUSD1):c.2239G>A (p.Val747Met)	LOC126860731, SUSD1 (V747M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172240	NM_022486.5(SUSD1):c.2224C>T (p.Leu742Phe)	LOC126860731, SUSD1 (L742F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346651	NM_022486.5(SUSD1):c.2179G>A (p.Gly727Ser)	LOC126860731, SUSD1 (G727S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2409163	NM_022486.5(SUSD1):c.2141A>C (p.Gln714Pro)	SUSD1 (Q714P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342535	NM_022486.5(SUSD1):c.2092A>G (p.Thr698Ala)	SUSD1 (T698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172239	NM_022486.5(SUSD1):c.1936G>A (p.Ala646Thr)	SUSD1 (A646T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223303	NM_022486.5(SUSD1):c.1915G>T (p.Ala639Ser)	SUSD1 (A639S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172238	NM_022486.5(SUSD1):c.1898C>A (p.Ser633Tyr)	SUSD1 (S633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295333	NM_022486.5(SUSD1):c.1705C>G (p.Leu569Val)	SUSD1 (L569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558268	NM_022486.5(SUSD1):c.1673C>T (p.Pro558Leu)	SUSD1 (P558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388170	NM_022486.5(SUSD1):c.1669C>T (p.Arg557Cys)	SUSD1 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268084	NM_022486.5(SUSD1):c.1633A>G (p.Ser545Gly)	SUSD1 (S545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323677	NM_022486.5(SUSD1):c.1546G>C (p.Asp516His)	SUSD1 (D516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343795	NM_022486.5(SUSD1):c.1435C>T (p.Arg479Trp)	SUSD1 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334550	NM_022486.5(SUSD1):c.1420C>G (p.Leu474Val)	SUSD1 (L474V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212644	NM_022486.5(SUSD1):c.1354G>A (p.Glu452Lys)	SUSD1 (E452K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558399	NM_022486.5(SUSD1):c.1352G>A (p.Arg451Lys)	SUSD1 (R451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472690	NM_022486.5(SUSD1):c.1330A>G (p.Thr444Ala)	SUSD1 (T444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172237	NM_022486.5(SUSD1):c.1327G>T (p.Ala443Ser)	SUSD1 (A443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528342	NM_022486.5(SUSD1):c.1321T>C (p.Ser441Pro)	SUSD1 (S441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340515	NM_022486.5(SUSD1):c.1246C>T (p.Arg416Cys)	SUSD1 (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403768	NM_022486.5(SUSD1):c.1245G>T (p.Arg415Ser)	SUSD1 (R415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323676	NM_022486.5(SUSD1):c.1216T>C (p.Phe406Leu)	SUSD1 (F406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323675	NM_022486.5(SUSD1):c.1205A>G (p.Asn402Ser)	SUSD1 (N402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616799	NM_022486.5(SUSD1):c.1024G>A (p.Val342Ile)	SUSD1 (V342I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223675	NM_022486.5(SUSD1):c.1013C>T (p.Pro338Leu)	SUSD1 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490167	NM_022486.5(SUSD1):c.870T>A (p.Ser290Arg)	SUSD1 (S290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172246	NM_022486.5(SUSD1):c.788G>A (p.Arg263His)	SUSD1 (R263H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314881	NM_022486.5(SUSD1):c.787C>T (p.Arg263Cys)	SUSD1 (R263C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3323678	NM_022486.5(SUSD1):c.784G>A (p.Ala262Thr)	SUSD1 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172245	NM_022486.5(SUSD1):c.778G>C (p.Gly260Arg)	SUSD1 (G260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518386	NM_022486.5(SUSD1):c.778G>A (p.Gly260Ser)	SUSD1 (G260S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172244	NM_022486.5(SUSD1):c.737G>A (p.Arg246Gln)	SUSD1 (R246Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250007	NM_022486.5(SUSD1):c.607C>T (p.Arg203Cys)	SUSD1 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172243	NM_022486.5(SUSD1):c.542C>T (p.Thr181Ile)	SUSD1 (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244931	NM_022486.5(SUSD1):c.508G>A (p.Asp170Asn)	SUSD1 (D170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285127	NM_022486.5(SUSD1):c.490C>T (p.Pro164Ser)	SUSD1 (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517430	NM_022486.5(SUSD1):c.424G>A (p.Val142Met)	SUSD1 (V142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208133	NM_022486.5(SUSD1):c.346A>T (p.Ile116Phe)	SUSD1 (I116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315676	NM_022486.5(SUSD1):c.286G>A (p.Gly96Arg)	SUSD1 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406651	NM_022486.5(SUSD1):c.262C>T (p.His88Tyr)	SUSD1 (H88Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473769	NM_022486.5(SUSD1):c.178A>C (p.Asn60His)	SUSD1 (N60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481627	NM_022486.5(SUSD1):c.32C>T (p.Ser11Phe)	LOC130002391, SUSD1 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172242	NM_022486.5(SUSD1):c.23C>T (p.Ala8Val)	LOC130002391, SUSD1 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 44