SERTAD4[gene] - ClinVar

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Items: 50

	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 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 3160527	NM_019605.5(SERTAD4):c.34G>A (p.Glu12Lys)	SERTAD4 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160528	NM_019605.5(SERTAD4):c.52G>A (p.Gly18Arg)	SERTAD4 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271224	NM_019605.5(SERTAD4):c.71G>A (p.Gly24Glu)	SERTAD4 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160530	NM_019605.5(SERTAD4):c.83T>C (p.Leu28Pro)	SERTAD4 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329924	NM_019605.5(SERTAD4):c.110C>T (p.Pro37Leu)	SERTAD4 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160526	NM_019605.5(SERTAD4):c.152G>A (p.Arg51Gln)	SERTAD4 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407705	NM_019605.5(SERTAD4):c.154G>A (p.Gly52Arg)	SERTAD4 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317659	NM_019605.5(SERTAD4):c.166C>T (p.Pro56Ser)	SERTAD4 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614088	NM_019605.5(SERTAD4):c.166C>G (p.Pro56Ala)	SERTAD4 (P56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213567	NM_019605.5(SERTAD4):c.185A>G (p.Tyr62Cys)	SERTAD4 (Y62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317662	NM_019605.5(SERTAD4):c.278G>A (p.Ser93Asn)	SERTAD4 (S93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234428	NM_019605.5(SERTAD4):c.314G>A (p.Arg105Gln)	SERTAD4 (R105Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355587	NM_019605.5(SERTAD4):c.358G>A (p.Asp120Asn)	SERTAD4 (D120N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323466	NM_019605.5(SERTAD4):c.521A>C (p.Lys174Thr)	SERTAD4 (K174T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254707	NM_019605.5(SERTAD4):c.538A>G (p.Lys180Glu)	SERTAD4 (K180E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292570	NM_019605.5(SERTAD4):c.601A>G (p.Asn201Asp)	SERTAD4 (N201D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466322	NM_019605.5(SERTAD4):c.623C>T (p.Ala208Val)	SERTAD4 (A208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300718	NM_019605.5(SERTAD4):c.652T>C (p.Ser218Pro)	SERTAD4 (S218P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493339	NM_019605.5(SERTAD4):c.700C>T (p.Pro234Ser)	SERTAD4 (P234S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317661	NM_019605.5(SERTAD4):c.713C>G (p.Pro238Arg)	SERTAD4 (P238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317663	NM_019605.5(SERTAD4):c.738T>G (p.Phe246Leu)	SERTAD4 (F246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399137	NM_019605.5(SERTAD4):c.741T>A (p.Asp247Glu)	SERTAD4 (D247E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304304	NM_019605.5(SERTAD4):c.823G>A (p.Val275Ile)	SERTAD4 (V275I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318740	NM_019605.5(SERTAD4):c.872A>G (p.Asn291Ser)	SERTAD4 (N291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368765	NM_019605.5(SERTAD4):c.958A>T (p.Thr320Ser)	SERTAD4 (T320S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317660	NM_019605.5(SERTAD4):c.1030C>T (p.Pro344Ser)	SERTAD4 (P344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616865	NM_019605.5(SERTAD4):c.1057G>A (p.Gly353Arg)	SERTAD4 (G353R)	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 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 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 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814157	GRCh37/hg19 1q32.2(chr1:210400669-210722770)x1	HHAT, SERTAD4	Copy number loss	not provided	GUncertain significance
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 565218	GRCh37/hg19 1q32.2(chr1:210026523-211033868)x3	HHAT, KCNH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
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 395067	GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1	C1orf74, CAMK1G +9 more	Copy number loss	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: 50