SPDYC[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2301007	NM_001008778.3(SPDYC):c.-42C>T	SPDYC	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2495705	NM_001008778.3(SPDYC):c.29C>T (p.Ser10Phe)	SPDYC (S10F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379863	NM_001008778.3(SPDYC):c.100T>C (p.Phe34Leu)	SPDYC (F34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399912	NM_001008778.3(SPDYC):c.170C>T (p.Ser57Phe)	SPDYC (S57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535671	NM_001008778.3(SPDYC):c.305T>C (p.Met102Thr)	SPDYC (M102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511768	NM_001008778.3(SPDYC):c.496C>T (p.Arg166Trp)	SPDYC (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590791	NM_001008778.3(SPDYC):c.506G>A (p.Arg169His)	SPDYC (R169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357458	NM_001008778.3(SPDYC):c.524T>G (p.Val175Gly)	SPDYC (V175G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361113	NM_001008778.3(SPDYC):c.553C>T (p.Arg185Cys)	SPDYC (R185C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278001	NM_001008778.3(SPDYC):c.613C>T (p.His205Tyr)	SPDYC (H205Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524440	NM_001008778.3(SPDYC):c.679C>T (p.Arg227Cys)	SPDYC (R227C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541866	NM_001008778.3(SPDYC):c.695A>C (p.Asn232Thr)	SPDYC (N232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256608	NM_001008778.3(SPDYC):c.764T>C (p.Leu255Pro)	SPDYC (L255P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	ARL2, ATG2A +29 more	Copy number gain	not provided	GUncertain significance
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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25