690[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2261617	NM_006321.4(ARIH2):c.199A>C (p.Lys67Gln)	ARIH2 (K67Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2512655	NM_006321.4(ARIH2):c.335A>G (p.Asn112Ser)	ARIH2 (N28S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598493	NM_006321.4(ARIH2):c.352G>T (p.Val118Phe)	ARIH2 (V118F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312711	NM_006321.4(ARIH2):c.388G>A (p.Val130Ile)	ARIH2 (V46I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341574	NM_006321.4(ARIH2):c.517G>A (p.Val173Ile)	ARIH2 (V101I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2494748	NM_006321.4(ARIH2):c.529G>A (p.Val177Met)	ARIH2 (V105M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129513	NM_006321.4(ARIH2):c.561C>G (p.Asp187Glu)	ARIH2 (D115E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314908	NM_006321.4(ARIH2):c.608A>G (p.Asn203Ser)	ARIH2 (N20S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129514	NM_006321.4(ARIH2):c.712C>T (p.Arg238Trp)	ARIH2 (R154W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801738	NM_006321.4(ARIH2):c.847G>A (p.Asp283Asn)	ARIH2 (D100N +4 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 3129512	NM_006321.4(ARIH2):c.1309G>A (p.Gly437Arg)	ARIH2 (G365R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310950	NM_006321.4(ARIH2):c.1404C>G (p.Asp468Glu)	ARIH2 (D308E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2692232	NM_006321.4(ARIH2):c.1411-3C>T	ARIH2	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2325693	NM_006321.4(ARIH2):c.1436C>T (p.Ala479Val)	ARIH2 (A319V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3246860	NC_000003.11:g.(?_48895143)_(49213234_?)del	ARIH2, ARIH2OS +13 more	Deletion	Carnitine acylcarnitine translocase deficiency	GPathogenic
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 28