20959[HGNC] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 2250725	NM_014892.5(SCAF8):c.362A>G (p.Asn121Ser)	SCAF8 (N121S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531949	NM_014892.5(SCAF8):c.464G>A (p.Ser155Asn)	SCAF8 (S200N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615394	NM_014892.5(SCAF8):c.484G>A (p.Val162Met)	SCAF8 (V207M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158195	NM_014892.5(SCAF8):c.506A>G (p.Asn169Ser)	SCAF8 (N235S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316348	NM_014892.5(SCAF8):c.566C>A (p.Ala189Glu)	SCAF8 (A189E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158196	NM_014892.5(SCAF8):c.939A>T (p.Glu313Asp)	SCAF8 (E379D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316341	NM_014892.5(SCAF8):c.1072C>T (p.Pro358Ser)	SCAF8 (P424S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404431	NM_014892.5(SCAF8):c.1082A>G (p.Asn361Ser)	SCAF8 (N427S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158179	NM_014892.5(SCAF8):c.1097T>C (p.Ile366Thr)	SCAF8 (I432T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158180	NM_014892.5(SCAF8):c.1214G>A (p.Arg405Gln)	SCAF8 (R450Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247794	NM_014892.5(SCAF8):c.1220G>A (p.Arg407His)	SCAF8 (R452H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554012	NM_014892.5(SCAF8):c.1241G>A (p.Arg414Gln)	SCAF8 (R492Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605133	NM_014892.5(SCAF8):c.1313G>A (p.Arg438Lys)	SCAF8 (R438K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316347	NM_014892.5(SCAF8):c.1330C>T (p.Arg444Trp)	SCAF8 (R444W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158181	NM_014892.5(SCAF8):c.1396C>T (p.Pro466Ser)	SCAF8 (P532S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158182	NM_014892.5(SCAF8):c.1628T>C (p.Val543Ala)	SCAF8 (V588A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316346	NM_014892.5(SCAF8):c.1930C>G (p.Pro644Ala)	SCAF8 (P689A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489922	NM_014892.5(SCAF8):c.1945G>A (p.Val649Met)	SCAF8 (V715M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316338	NM_014892.5(SCAF8):c.2096C>G (p.Pro699Arg)	SCAF8 (P744R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316337	NM_014892.5(SCAF8):c.2104G>A (p.Val702Met)	SCAF8 (V747M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316352	NM_014892.5(SCAF8):c.2113C>T (p.Pro705Ser)	SCAF8 (P705S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263709	NM_014892.5(SCAF8):c.2117C>A (p.Thr706Lys)	SCAF8 (T772K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158183	NM_014892.5(SCAF8):c.2201G>A (p.Ser734Asn)	SCAF8 (S800N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158184	NM_014892.5(SCAF8):c.2246C>A (p.Ser749Tyr)	SCAF8 (S749Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351626	NM_014892.5(SCAF8):c.2248G>A (p.Ala750Thr)	SCAF8 (A750T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476394	NM_014892.5(SCAF8):c.2462C>T (p.Ser821Leu)	SCAF8 (S821L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412427	NM_014892.5(SCAF8):c.2521A>G (p.Ile841Val)	SCAF8 (I919V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316342	NM_014892.5(SCAF8):c.2627T>C (p.Ile876Thr)	SCAF8 (I876T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366661	NM_014892.5(SCAF8):c.2701C>G (p.Pro901Ala)	SCAF8 (P901A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316349	NM_014892.5(SCAF8):c.2711G>C (p.Gly904Ala)	SCAF8 (G904A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316345	NM_014892.5(SCAF8):c.2717A>G (p.Gln906Arg)	SCAF8 (Q951R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158185	NM_014892.5(SCAF8):c.2732T>C (p.Leu911Ser)	SCAF8 (L911S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302782	NM_014892.5(SCAF8):c.2780G>A (p.Arg927His)	SCAF8 (R1005H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595303	NM_014892.5(SCAF8):c.2806G>A (p.Gly936Arg)	SCAF8 (G1002R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158186	NM_014892.5(SCAF8):c.2848C>T (p.Arg950Trp)	SCAF8 (R1028W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589148	NM_014892.5(SCAF8):c.2864C>T (p.Pro955Leu)	SCAF8 (P1000L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279637	NM_014892.5(SCAF8):c.2891C>T (p.Pro964Leu)	SCAF8 (P1030L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596626	NM_014892.5(SCAF8):c.2980G>A (p.Val994Ile)	SCAF8 (V1072I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344507	NM_014892.5(SCAF8):c.3008T>A (p.Leu1003His)	SCAF8 (L1048H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158187	NM_014892.5(SCAF8):c.3088C>T (p.Pro1030Ser)	SCAF8 (P1096S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158188	NM_014892.5(SCAF8):c.3109G>T (p.Asp1037Tyr)	SCAF8 (D1103Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158189	NM_014892.5(SCAF8):c.3151C>T (p.Arg1051Trp)	SCAF8 (R1051W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336885	NM_014892.5(SCAF8):c.3151C>G (p.Arg1051Gly)	SCAF8 (R1051G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471358	NM_014892.5(SCAF8):c.3172G>A (p.Asp1058Asn)	SCAF8 (D1124N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429804	NM_014892.5(SCAF8):c.3200_3204del (p.Ile1067fs)	SCAF8 (I1067fs +3 more)	Deletion (frameshift variant)	Autism spectrum disorder	GLikely benign
Select item 3158190	NM_014892.5(SCAF8):c.3232C>G (p.His1078Asp)	SCAF8 (H1156D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158191	NM_014892.5(SCAF8):c.3241C>G (p.Arg1081Gly)	SCAF8 (R1147G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316353	NM_014892.5(SCAF8):c.3308A>C (p.Glu1103Ala)	SCAF8 (E1103A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316350	NM_014892.5(SCAF8):c.3382T>C (p.Tyr1128His)	SCAF8 (Y1206H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456791	NM_014892.5(SCAF8):c.3394C>A (p.Pro1132Thr)	SCAF8 (P1132T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524245	NM_014892.5(SCAF8):c.3403G>A (p.Gly1135Ser)	SCAF8 (G1180S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546562	NM_014892.5(SCAF8):c.3437A>G (p.His1146Arg)	SCAF8 (H1224R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487312	NM_014892.5(SCAF8):c.3455G>A (p.Arg1152His)	SCAF8 (R1218H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158192	NM_014892.5(SCAF8):c.3560G>C (p.Trp1187Ser)	SCAF8 (W1232S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316343	NM_014892.5(SCAF8):c.3587T>C (p.Phe1196Ser)	SCAF8 (F1196S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306518	NM_014892.5(SCAF8):c.3664C>T (p.His1222Tyr)	SCAF8 (H1267Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386545	NM_014892.5(SCAF8):c.3672G>T (p.Gln1224His)	SCAF8 (Q1290H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158193	NM_014892.5(SCAF8):c.3673C>T (p.Pro1225Ser)	SCAF8 (P1270S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316344	NM_014892.5(SCAF8):c.3761T>A (p.Val1254Asp)	SCAF8 (V1254D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158194	NM_014892.5(SCAF8):c.3769A>C (p.Ile1257Leu)	SCAF8 (I1302L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1340803	GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	ARID1B, CLDN20 +7 more	Copy number loss	not provided	GPathogenic
Select item 687133	GRCh37/hg19 6q25.2-25.3(chr6:154648703-156904256)x1	CLDN20, CNKSR3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	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 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 83