ClinVar for Gene (Select 245915) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271455	NM_001369057.2(DEFB112):c.277C>T (p.Arg93Cys)	DEFB112 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459587	NM_001369057.2(DEFB112):c.196A>G (p.Thr66Ala)	DEFB112 (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312970	NM_001369057.2(DEFB112):c.176C>T (p.Pro59Leu)	DEFB112 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302487	NM_001369057.2(DEFB112):c.143A>G (p.Asp48Gly)	DEFB112 (D48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277689	NM_001369057.2(DEFB112):c.235A>C (p.Lys79Gln)	DEFB112 (K79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236653	NM_001369057.2(DEFB112):c.202T>C (p.Cys68Arg)	DEFB112 (C68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1455701	NC_000006.11:g.(?_50011288)_(50812180_?)del	DEFB112, TFAP2B +1 more	Deletion	not provided	GPathogenic
Select item 1340034	GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1	C6orf141, CENPQ +10 more	Copy number loss	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979548	GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1	PGK2, DEFB113 +11 more	Copy number loss	not provided	GUncertain significance
Select item 814811	GRCh37/hg19 6p12.3(chr6:49459881-50024153)x1	DEFB113, C6orf141 +10 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	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 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic