SYT12[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 59758	GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3	KDM2A, LOC107984341 +27 more	Copy number gain	See cases	GPathogenic
Select item 2600893	NM_177963.4(SYT12):c.17C>T (p.Ala6Val)	SYT12 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338135	NM_177963.4(SYT12):c.19G>A (p.Glu7Lys)	SYT12 (E7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622189	NM_177963.4(SYT12):c.76G>T (p.Ala26Ser)	SYT12 (A26S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267615	NM_177963.4(SYT12):c.77C>T (p.Ala26Val)	SYT12 (A26V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270182	NM_177963.4(SYT12):c.89C>G (p.Ala30Gly)	SYT12 (A30G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253054	NM_177963.4(SYT12):c.158C>T (p.Pro53Leu)	SYT12 (P53L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343662	NM_177963.4(SYT12):c.281G>A (p.Arg94His)	SYT12 (R94H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513103	NM_177963.4(SYT12):c.308C>T (p.Thr103Ile)	SYT12 (T103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172960	NM_177963.4(SYT12):c.360G>T (p.Leu120Phe)	SYT12 (L5F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349242	NM_177963.4(SYT12):c.385C>T (p.Arg129Trp)	SYT12 (R14W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226968	NM_177963.4(SYT12):c.515C>T (p.Ala172Val)	SYT12 (A172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243180	NM_177963.4(SYT12):c.544C>T (p.Arg182Trp)	SYT12 (R182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379720	NM_177963.4(SYT12):c.545G>A (p.Arg182Gln)	SYT12 (R67Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224881	NM_177963.4(SYT12):c.577C>T (p.Arg193Cys)	SYT12 (R78C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172961	NM_177963.4(SYT12):c.619C>T (p.Arg207Trp)	SYT12 (R92W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315314	NM_177963.4(SYT12):c.654T>A (p.Asp218Glu)	SYT12 (D103E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617709	NM_177963.4(SYT12):c.700A>G (p.Ser234Gly)	SYT12 (S119G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549104	NM_177963.4(SYT12):c.739C>T (p.Arg247Cys)	SYT12 (R132C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441144	NM_177963.4(SYT12):c.791C>T (p.Pro264Leu)	SYT12 (P264L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2592470	NM_177963.4(SYT12):c.844G>A (p.Asp282Asn)	SYT12 (D282N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172962	NM_177963.4(SYT12):c.896G>A (p.Arg299His)	SYT12 (R299H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172964	NM_177963.4(SYT12):c.904G>A (p.Val302Met)	SYT12 (V302M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519883	NM_177963.4(SYT12):c.1021G>A (p.Val341Met)	SYT12 (V226M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206385	NM_177963.4(SYT12):c.1033G>A (p.Asp345Asn)	SYT12 (D230N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609581	NM_177963.4(SYT12):c.1054G>A (p.Glu352Lys)	SYT12 (E237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172955	NM_177963.4(SYT12):c.1082T>C (p.Ile361Thr)	SYT12 (I246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172956	NM_177963.4(SYT12):c.1097T>C (p.Leu366Pro)	SYT12 (L251P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508142	NM_177963.4(SYT12):c.1105C>T (p.Arg369Cys)	SYT12 (R254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207962	NM_177963.4(SYT12):c.1106G>A (p.Arg369His)	SYT12 (R254H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172957	NM_177963.4(SYT12):c.1108G>C (p.Val370Leu)	SYT12 (V370L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172958	NM_177963.4(SYT12):c.1130G>T (p.Ser377Ile)	SYT12 (S262I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211505	NM_177963.4(SYT12):c.1172C>T (p.Pro391Leu)	SYT12 (P391L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290849	NM_177963.4(SYT12):c.1211T>G (p.Met404Arg)	SYT12 (M289R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290850	NM_177963.4(SYT12):c.1256G>A (p.Arg419Gln)	SYT12 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527646	GRCh37/hg19 11q13.2(chr11:66673078-66942028)	C11orf86, KDM2A +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339909	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	KDM2A, RHOD +1 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815436	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	RHOD, SYT12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563841	GRCh37/hg19 11q13.2(chr11:66662614-66975223)x3	C11orf86, SYT12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 52