LYPD6B[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 2290345	NM_177964.5(LYPD6B):c.25A>G (p.Asn9Asp)	LYPD6B (N9D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290275	NM_177964.5(LYPD6B):c.103C>T (p.His35Tyr)	LYPD6B (H11Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507444	NM_177964.5(LYPD6B):c.113G>A (p.Ser38Asn)	LYPD6B (S38N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611445	NM_177964.5(LYPD6B):c.133G>A (p.Ala45Thr)	LYPD6B (A7T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277311	NM_177964.5(LYPD6B):c.133G>T (p.Ala45Ser)	LYPD6B (A21S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292391	NM_177964.5(LYPD6B):c.136C>G (p.Leu46Val)	LYPD6B (L46V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121700	NM_177964.5(LYPD6B):c.139G>A (p.Ala47Thr)	LYPD6B (A9T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121701	NM_177964.5(LYPD6B):c.254A>G (p.Lys85Arg)	LYPD6B (K85R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380495	NM_177964.5(LYPD6B):c.296A>G (p.Asn99Ser)	LYPD6B (N61S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456892	NM_177964.5(LYPD6B):c.371G>T (p.Gly124Val)	LYPD6B (G86V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619988	NM_177964.5(LYPD6B):c.376A>C (p.Ser126Arg)	LYPD6B (S88R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292392	NM_177964.5(LYPD6B):c.472T>G (p.Cys158Gly)	LYPD6B (C120G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245022	NM_177964.5(LYPD6B):c.476G>A (p.Cys159Tyr)	LYPD6B (C159Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235875	NM_177964.5(LYPD6B):c.493A>G (p.Asn165Asp)	LYPD6B (N127D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2403194	NM_177964.5(LYPD6B):c.535G>A (p.Val179Ile)	LYPD6B (V141I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121702	NM_177964.5(LYPD6B):c.586C>T (p.Pro196Ser)	LYPD6B (P158S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526920	GRCh37/hg19 2q23.1-23.2(chr2:149218583-149933863)	EPC2, LYPD6B +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526917	GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195)	EPC2, LYPD6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442694	GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1	ACVR2A, EPC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395440	GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1	EPC2, LYPD6 +9 more	Copy number loss	See cases	GPathogenic
Select item 253848	GRCh37/hg19 2q23.1-23.3(chr2:149811293-151128706)x3	MMADHC, LYPD6 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 39