ClinVar for Gene (Select 137868) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317916	NM_139167.4(SGCZ):c.419C>T (p.Thr140Ile)	SGCZ (T106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160994	NM_139167.4(SGCZ):c.871C>T (p.Leu291Phe)	SGCZ (L250F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160993	NM_139167.4(SGCZ):c.712A>G (p.Lys238Glu)	SGCZ (K123E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160992	NM_139167.4(SGCZ):c.613G>T (p.Asp205Tyr)	SGCZ (D205Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160991	NM_139167.4(SGCZ):c.502G>T (p.Asp168Tyr)	SGCZ (D168Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063057	GRCh37/hg19 8p22(chr8:13356544-14659874)x3	C8orf48, DLC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063048	GRCh37/hg19 8p22(chr8:13295342-14299171)x1	C8orf48, DLC1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684527	GRCh37/hg19 8p23.1-22(chr8:12560782-13948729)x3	C8orf48, DLC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2618073	NM_139167.4(SGCZ):c.147A>C (p.Leu49Phe)	SGCZ (L49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612133	NM_139167.4(SGCZ):c.171G>T (p.Leu57Phe)	SGCZ (L57F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2536177	NM_139167.4(SGCZ):c.202A>G (p.Ile68Val)	SGCZ (I68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516880	NM_139167.4(SGCZ):c.559G>A (p.Ala187Thr)	SGCZ (A153T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479367	NM_139167.4(SGCZ):c.421A>G (p.Ile141Val)	SGCZ (I107V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474554	NM_139167.4(SGCZ):c.770A>G (p.Lys257Arg)	SGCZ (K142R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462133	NM_139167.4(SGCZ):c.896G>A (p.Gly299Asp)	SGCZ (G184D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390522	NM_139167.4(SGCZ):c.172G>A (p.Val58Ile)	SGCZ (V58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388336	NM_139167.4(SGCZ):c.699G>C (p.Lys233Asn)	SGCZ (K192N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334782	NM_139167.4(SGCZ):c.214A>C (p.Lys72Gln)	SGCZ (K72Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334256	NM_139167.4(SGCZ):c.748T>C (p.Phe250Leu)	SGCZ (F135L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328164	NM_139167.4(SGCZ):c.131G>T (p.Trp44Leu)	SGCZ (W44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311862	NM_139167.4(SGCZ):c.68C>T (p.Thr23Ile)	SGCZ (T23I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275731	NM_139167.4(SGCZ):c.243G>A (p.Met81Ile)	SGCZ (M7I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270386	NM_139167.4(SGCZ):c.587C>T (p.Pro196Leu)	SGCZ (P196L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240484	NM_139167.4(SGCZ):c.799T>C (p.Ser267Pro)	SGCZ (S152P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230894	NM_139167.4(SGCZ):c.176C>A (p.Thr59Asn)	SGCZ (T59N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221812	NM_139167.4(SGCZ):c.723T>G (p.His241Gln)	SGCZ (H126Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220087	NM_139167.4(SGCZ):c.809C>T (p.Ser270Leu)	SGCZ (S236L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808738	GRCh37/hg19 8p22(chr8:13975474-14321653)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 1808182	GRCh37/hg19 8p22(chr8:15071971-16717799)x1	MSR1, SGCZ +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1338834	GRCh38/hg38 8p22(chr8:13974643-14229824)	LOC132089565, LOC132089566 +14 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980308	GRCh37/hg19 8p22(chr8:13560318-14140093)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 980306	GRCh37/hg19 8p22(chr8:13933532-14395725)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 816498	GRCh37/hg19 8p22(chr8:13356802-14660575)x4	C8orf48, DLC1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 815102	GRCh37/hg19 8p22(chr8:14687209-15239240)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 815101	GRCh37/hg19 8p22(chr8:14346801-14848001)x3	SGCZ	Copy number gain	not provided	GLikely benign
Select item 815100	GRCh37/hg19 8p22(chr8:13933532-14044132)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 688881	GRCh37/hg19 8p22(chr8:13845508-13975474)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 688613	GRCh37/hg19 8p22(chr8:13815152-14149245)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 685432	GRCh37/hg19 8p22(chr8:14515179-16846319)x3	MSR1, SGCZ +1 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563532	GRCh37/hg19 8p22(chr8:13587890-16409759)x1	MSR1, SGCZ +1 more	Copy number loss	not provided	GUncertain significance
Select item 563519	GRCh37/hg19 8p22(chr8:13356543-14659604)x4	C8orf48, DLC1 +1 more	Copy number gain	not provided	GLikely benign
Select item 563495	GRCh37/hg19 8p22(chr8:14749732-15306611)x3	SGCZ	Copy number gain	not provided	GLikely benign
Select item 563450	GRCh37/hg19 8p22(chr8:14104767-14299171)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 443061	GRCh37/hg19 8p22(chr8:13752510-14660057)x3	SGCZ	Copy number gain	See cases	GUncertain significance
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442237	GRCh37/hg19 8p23.1-22(chr8:12490999-14047332)x1	C8orf48, DLC1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 442181	GRCh37/hg19 8p22(chr8:13356543-14659874)x4	C8orf48, DLC1 +1 more	Copy number gain	See cases	GLikely benign
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 395533	GRCh37/hg19 8p23.1-22(chr8:12580132-14293267)x3	C8orf48, DLC1 +3 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 160963	GRCh38/hg38 8p22(chr8:13544227-14757731)x3	C8orf48, DLC1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 155597	GRCh38/hg38 8p22(chr8:13417889-14258031)x3	C8orf48, DLC1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 155433	GRCh38/hg38 8p22(chr8:13302159-14802548)x3	LOC132089576, LOC132089577 +29 more	Copy number gain	See cases	GLikely benign
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154480	GRCh38/hg38 8p22(chr8:13544227-14757731)x4	C8orf48, DLC1 +28 more	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 2