ClinVar for Gene (Select 5619) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310230	NM_002761.3(PRM1):c.27C>G (p.Ser9Arg)	PRM1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3218908	NM_002761.3(PRM1):c.98G>T (p.Arg33Leu)	PRM1 (R33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218907	NM_002761.3(PRM1):c.97C>T (p.Arg33Trp)	PRM1 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551440	NM_002761.3(PRM1):c.34C>T (p.Arg12Trp)	PRM1 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550203	NM_002761.3(PRM1):c.16T>A (p.Cys6Ser)	PRM1 (C6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2406022	NM_002761.3(PRM1):c.68G>T (p.Arg23Leu)	PRM1 (R23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398349	NM_002761.3(PRM1):c.30G>C (p.Gln10His)	PRM1 (Q10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306124	NM_002761.3(PRM1):c.41G>A (p.Arg14Lys)	PRM1 (R14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255042	NM_002761.3(PRM1):c.74G>A (p.Arg25Gln)	PRM1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	ABAT, ATF7IP2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1272307	NM_002761.3(PRM1):c.139C>A (p.Arg47=)	PRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1223123	NC_000016.10:g.11281429G>T	PRM1	Single nucleotide variant	not provided	GBenign
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685913	GRCh37/hg19 16p13.13(chr16:11124777-11387164)x1	CLEC16A, PRM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253820	GRCh37/hg19 16p13.13(chr16:11173868-11681288)x3	PRM2, PRM3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148534	GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3	CIITA, CLEC16A +81 more	Copy number gain	See cases	GLikely benign
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39