SP9[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 2236392	NM_001145250.2(SP9):c.208A>T (p.Thr70Ser)	SP9 (T70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606683	NM_001145250.2(SP9):c.214G>A (p.Gly72Ser)	SP9 (G72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548213	NM_001145250.2(SP9):c.236C>T (p.Ala79Val)	SP9 (R368H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319907	NM_001145250.2(SP9):c.236C>A (p.Ala79Glu)	SP9 (A79E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167967	NM_001145250.2(SP9):c.286C>T (p.Pro96Ser)	SP9 (P96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651547	NM_001145250.2(SP9):c.468G>A (p.Glu156=)	SP9 (L291F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2457630	NM_001145250.2(SP9):c.724G>A (p.Ala242Thr)	SP9 (A242T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246315	NM_001145250.2(SP9):c.745T>G (p.Ser249Ala)	SP9 (S249A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246316	NM_001145250.2(SP9):c.746C>A (p.Ser249Tyr)	SP9 (S249Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559304	NM_001145250.2(SP9):c.814G>A (p.Ala272Thr)	LOC129935131, SP9 (A272T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167969	NM_001145250.2(SP9):c.881G>A (p.Ser294Asn)	LOC129935131, SP9 (A153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167970	NM_001145250.2(SP9):c.947C>T (p.Ala316Val)	LOC129935131, SP9 (A316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297467	NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly)	SP9 (E378G)	Single nucleotide variant (missense variant)	SP9-associated disorder	GPathogenic
Select item 1297466	NM_001145250.2(SP9):c.1133A>C (p.Glu378Ala)	SP9 (E378A)	Single nucleotide variant (missense variant)	Abnormal caudate nucleus morphology +2 more	GLikely pathogenic
Select item 2527572	NM_001145250.2(SP9):c.1181G>C (p.Cys394Ser)	SP9 (C394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599032	NM_001145250.2(SP9):c.1186G>C (p.Val396Leu)	SP9 (V396L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297469	NM_001145250.2(SP9):c.1192_1207dup (p.Arg403fs)	SP9 (R403fs)	Duplication (frameshift variant)	Autistic behavior +1 more	GPathogenic
Select item 1297468	NM_001145250.2(SP9):c.1216del (p.His406fs)	SP9 (H406fs)	Deletion (frameshift variant)	Convulsive status epilepticus +5 more	GPathogenic
Select item 2526633	NM_001145250.2(SP9):c.1343C>T (p.Ser448Phe)	SP9 (S448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478416	NM_001145250.2(SP9):c.1355C>T (p.Ala452Val)	SP9 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618125	NM_001145250.2(SP9):c.1358C>G (p.Ala453Gly)	SP9 (A453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770876	NM_001145250.2(SP9):c.1386A>G (p.Ala462=)	SP9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3167966	NM_001145250.2(SP9):c.1388C>T (p.Ala463Val)	SP9 (A463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526935	GRCh37/hg19 2q31.1(chr2:174573334-175268147)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526934	GRCh37/hg19 2q31.1(chr2:174562039-175276727)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814346	GRCh37/hg19 2q31.1(chr2:174562000-175276727)x1	CIR1, OLA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814344	GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1	CDCA7, CIR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic

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Items: 58