25035[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2468599	NM_018566.4(YOD1):c.1031A>G (p.Asn344Ser)	PFKFB2, YOD1 (N344S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488656	NM_018566.4(YOD1):c.761G>C (p.Gly254Ala)	PFKFB2, YOD1 (G210A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275853	NM_018566.4(YOD1):c.640A>G (p.Lys214Glu)	PFKFB2, YOD1 (K214E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471062	NM_018566.4(YOD1):c.614C>A (p.Thr205Lys)	PFKFB2, YOD1 (T205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352906	NM_018566.4(YOD1):c.598G>A (p.Ala200Thr)	PFKFB2, YOD1 (A156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611983	NM_018566.4(YOD1):c.590A>G (p.Tyr197Cys)	PFKFB2, YOD1 (Y153C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329841	NM_018566.4(YOD1):c.549A>C (p.Arg183Ser)	PFKFB2, YOD1 (R183S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191620	NM_018566.4(YOD1):c.541G>A (p.Glu181Lys)	PFKFB2, YOD1 (E181K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241061	NM_018566.4(YOD1):c.539C>G (p.Pro180Arg)	PFKFB2, YOD1 (P136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246322	NM_018566.4(YOD1):c.453A>T (p.Arg151Ser)	PFKFB2, YOD1 (R107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333715	NM_018566.4(YOD1):c.424G>C (p.Val142Leu)	PFKFB2, YOD1 (V98L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285678	NM_018566.4(YOD1):c.290G>A (p.Cys97Tyr)	PFKFB2, YOD1 (C97Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349898	NM_018566.4(YOD1):c.253G>T (p.Gly85Cys)	PFKFB2, YOD1 (G41C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333717	NM_018566.4(YOD1):c.185G>A (p.Gly62Glu)	PFKFB2, YOD1 (G62E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210922	NM_018566.4(YOD1):c.124C>T (p.Arg42Trp)	PFKFB2, YOD1 (R42W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191623	NM_018566.4(YOD1):c.91G>A (p.Ala31Thr)	PFKFB2, YOD1 (A31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191622	NM_018566.4(YOD1):c.88A>G (p.Lys30Glu)	PFKFB2, YOD1 (K30E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191621	NM_018566.4(YOD1):c.81C>T (p.Ala27=)	PFKFB2, YOD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2248100	NM_018566.4(YOD1):c.74A>G (p.Gln25Arg)	PFKFB2, YOD1 (Q25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386079	NM_018566.4(YOD1):c.70C>A (p.Gln24Lys)	PFKFB2, YOD1 (Q24K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313479	NM_018566.4(YOD1):c.58G>C (p.Gly20Arg)	PFKFB2, YOD1 (G20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253269	NM_018566.4(YOD1):c.56C>T (p.Pro19Leu)	PFKFB2, YOD1 (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460081	NM_018566.4(YOD1):c.55C>T (p.Pro19Ser)	PFKFB2, YOD1 (P19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191619	NM_018566.4(YOD1):c.43G>T (p.Ala15Ser)	PFKFB2, YOD1 (A15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350558	NM_018566.4(YOD1):c.37C>T (p.His13Tyr)	PFKFB2, YOD1 (H13Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 443302	GRCh37/hg19 1q32.1-32.2(chr1:206961307-207252090)x1	C1orf116, FCAMR +7 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 44