SPDEF[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2252838	NM_012391.3(SPDEF):c.919C>A (p.Arg307Ser)	SPDEF (R307S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656505	NM_012391.3(SPDEF):c.906C>T (p.Tyr302=)	SPDEF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3168721	NM_012391.3(SPDEF):c.889C>T (p.Arg297Cys)	SPDEF (R281C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458257	NM_012391.3(SPDEF):c.865C>T (p.Arg289Trp)	SPDEF (R273W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513135	NM_012391.3(SPDEF):c.779T>A (p.Leu260His)	SPDEF (L244H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264335	NM_012391.3(SPDEF):c.674A>G (p.His225Arg)	SPDEF (H225R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168719	NM_012391.3(SPDEF):c.664G>A (p.Gly222Arg)	SPDEF (G222R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168718	NM_012391.3(SPDEF):c.659C>T (p.Ser220Leu)	SPDEF (S220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322042	NM_012391.3(SPDEF):c.653G>A (p.Arg218Gln)	SPDEF (R218Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168717	NM_012391.3(SPDEF):c.652C>T (p.Arg218Trp)	SPDEF (R218W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488069	NM_012391.3(SPDEF):c.581G>T (p.Arg194Leu)	SPDEF (R194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168716	NM_012391.3(SPDEF):c.560C>T (p.Ser187Leu)	SPDEF (S187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600563	NM_012391.3(SPDEF):c.508C>G (p.Pro170Ala)	SPDEF (P170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783752	NM_012391.3(SPDEF):c.504G>C (p.Leu168=)	SPDEF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3168715	NM_012391.3(SPDEF):c.427A>G (p.Ile143Val)	SPDEF (I143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320743	NM_012391.3(SPDEF):c.328G>A (p.Gly110Ser)	SPDEF (G110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168714	NM_012391.3(SPDEF):c.281C>T (p.Pro94Leu)	SPDEF (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168713	NM_012391.3(SPDEF):c.247C>T (p.Arg83Trp)	SPDEF (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322041	NM_012391.3(SPDEF):c.232C>T (p.Pro78Ser)	SPDEF (P78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369773	NM_012391.3(SPDEF):c.229G>T (p.Ala77Ser)	SPDEF (A77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168712	NM_012391.3(SPDEF):c.214A>G (p.Ser72Gly)	SPDEF (S72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719709	NM_012391.3(SPDEF):c.144C>T (p.Pro48=)	SPDEF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2611544	NM_012391.3(SPDEF):c.134C>A (p.Pro45His)	SPDEF (P45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475287	NM_012391.3(SPDEF):c.98C>T (p.Ala33Val)	SPDEF (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211209	NM_012391.3(SPDEF):c.71C>T (p.Ser24Leu)	SPDEF (S24L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455943	NM_012391.3(SPDEF):c.65C>T (p.Thr22Met)	SPDEF (T22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373655	NM_012391.3(SPDEF):c.31G>A (p.Val11Ile)	SPDEF (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 979553	GRCh37/hg19 6p21.31(chr6:34471615-34659186)x1	ILRUN, PACSIN1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance

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: 36