ClinVar for Gene (Select 3304) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3107295	NM_005346.6(HSPA1B):c.1886G>A (p.Gly629Glu)	HSPA1B (G629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107294	NM_005346.6(HSPA1B):c.1729G>A (p.Val577Ile)	HSPA1B (V577I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594812	NM_005346.6(HSPA1B):c.1900G>A (p.Gly634Ser)	HSPA1B (G634S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495541	NM_005346.6(HSPA1B):c.193A>G (p.Asn65Asp)	HSPA1B (N65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2396382	NM_005346.6(HSPA1B):c.1901G>A (p.Gly634Asp)	HSPA1B (G634D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353682	NM_005346.6(HSPA1B):c.1545C>G (p.Ile515Met)	HSPA1B (I515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339096	NM_005346.6(HSPA1B):c.1654G>A (p.Ala552Thr)	HSPA1B (A552T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282511	NM_005346.6(HSPA1B):c.467A>G (p.Gln156Arg)	HSPA1B (Q156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 694519	NC_000006.12:g.31826815C>T	HSPA1B	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 694518	NM_005346.6(HSPA1B):c.-178C>T	HSPA1B	Single nucleotide variant (5 prime UTR variant)	Chronic obstructive pulmonary disease	Gassociation
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 395085	GRCh37/hg19 6p21.33(chr6:31782789-31797422)x1	HSPA1A, HSPA1B +1 more	Copy number loss	See cases	GBenign
Select item 394977	GRCh37/hg19 6p21.33(chr6:31777500-31831302)x1	SLC44A4, SNHG32 +4 more	Copy number loss	See cases	GLikely benign
Select item 394113	GRCh37/hg19 6p21.33(chr6:31797422-31807286)x1	HSPA1B, SNHG32	Copy number loss	See cases	GLikely benign
Select item 393858	GRCh37/hg19 6p21.33(chr6:31785228-31797422)x1	HSPA1A, HSPA1B	Copy number loss	See cases	GBenign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24