3326[HGNC] - ClinVar

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Items: 41

	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 152666	GRCh38/hg38 1q32.1(chr1:205609521-205666100)x3	ELK4, LOC126805988 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2247450	NM_001973.4(ELK4):c.1216A>T (p.Ser406Cys)	ELK4 (S406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275151	NM_001973.4(ELK4):c.1087A>T (p.Ile363Phe)	ELK4 (I363F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594732	NM_001973.4(ELK4):c.1049C>T (p.Thr350Ile)	ELK4 (T350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249904	NM_001973.4(ELK4):c.1046C>G (p.Pro349Arg)	ELK4 (P349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337190	NM_001973.4(ELK4):c.1039T>C (p.Ser347Pro)	ELK4 (S347P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554408	NM_001973.4(ELK4):c.968A>G (p.Lys323Arg)	ELK4 (K323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539104	NM_001973.4(ELK4):c.965C>G (p.Pro322Arg)	ELK4 (P322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397606	NM_001973.4(ELK4):c.866C>G (p.Pro289Arg)	ELK4 (P289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310378	NM_001973.4(ELK4):c.859T>C (p.Ser287Pro)	ELK4 (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088303	NM_001973.4(ELK4):c.851C>T (p.Ser284Leu)	ELK4 (S284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388230	NM_001973.4(ELK4):c.778C>A (p.Pro260Thr)	ELK4 (P260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291876	NM_001973.4(ELK4):c.739A>G (p.Thr247Ala)	ELK4 (T247A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088302	NM_001973.4(ELK4):c.719C>T (p.Thr240Ile)	ELK4 (T240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088300	NM_001973.4(ELK4):c.644C>G (p.Ser215Cys)	ELK4 (S215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618626	NM_001973.4(ELK4):c.641T>C (p.Ile214Thr)	ELK4 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275152	NM_001973.4(ELK4):c.640A>G (p.Ile214Val)	ELK4 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599378	NM_001973.4(ELK4):c.569A>G (p.Lys190Arg)	ELK4 (K190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088299	NM_001973.4(ELK4):c.476A>G (p.Asn159Ser)	ELK4 (N159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277259	NM_001973.4(ELK4):c.355G>A (p.Asp119Asn)	ELK4 (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305890	NM_001973.4(ELK4):c.290C>G (p.Thr97Arg)	ELK4 (T97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088298	NM_001973.4(ELK4):c.257C>T (p.Ser86Phe)	ELK4 (S86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333684	NM_001973.4(ELK4):c.52C>A (p.Pro18Thr)	ELK4 (P18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
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 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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565215	GRCh37/hg19 1q32.1(chr1:205364836-205697334)x3	LEMD1, SLC45A3 +4 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 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: 41