29001[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3299279	NM_001130963.2(NEMP1):c.1320C>A (p.Asn440Lys)	NEMP1 (N367K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789050	NM_001130963.2(NEMP1):c.1298G>A (p.Arg433Gln)	NEMP1 (R433Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299278	NM_001130963.2(NEMP1):c.1291T>C (p.Tyr431His)	NEMP1 (Y431H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455354	NM_001130963.2(NEMP1):c.1251T>G (p.Asp417Glu)	NEMP1 (D344E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193437	NM_001130963.2(NEMP1):c.1237A>G (p.Ile413Val)	NEMP1 (I413V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264844	NM_001130963.2(NEMP1):c.1136G>A (p.Arg379Gln)	NEMP1 (R306Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193434	NM_001130963.2(NEMP1):c.1129G>C (p.Val377Leu)	NEMP1 (V304L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595204	NM_001130963.2(NEMP1):c.1067G>A (p.Arg356Gln)	NEMP1 (R356Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620655	NM_001130963.2(NEMP1):c.1057G>A (p.Val353Ile)	NEMP1 (V280I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619196	NM_001130963.2(NEMP1):c.1009G>C (p.Val337Leu)	NEMP1 (V337L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787099	NM_001130963.2(NEMP1):c.989G>C (p.Cys330Ser)	NEMP1 (C257S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3193487	NM_001130963.2(NEMP1):c.929T>C (p.Leu310Pro)	NEMP1 (L310P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213776	NM_001130963.2(NEMP1):c.923T>C (p.Ile308Thr)	NEMP1 (I308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621820	NM_001130963.2(NEMP1):c.824G>A (p.Arg275Gln)	NEMP1 (R202Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551121	NM_001130963.2(NEMP1):c.821A>G (p.Glu274Gly)	NEMP1 (E274G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480338	NM_001130963.2(NEMP1):c.769G>C (p.Val257Leu)	NEMP1 (V257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193462	NM_001130963.2(NEMP1):c.694A>C (p.Ile232Leu)	NEMP1 (I232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285952	NM_001130963.2(NEMP1):c.568A>G (p.Thr190Ala)	NEMP1 (T117A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193452	NM_001130963.2(NEMP1):c.527G>A (p.Cys176Tyr)	NEMP1 (C176Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299280	NM_001130963.2(NEMP1):c.330T>G (p.Phe110Leu)	NEMP1 (F110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336538	NM_001130963.2(NEMP1):c.148G>C (p.Val50Leu)	NEMP1 (V50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487270	NM_001130963.2(NEMP1):c.145G>T (p.Val49Leu)	NEMP1 (V49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193480	NM_001130963.2(NEMP1):c.91C>T (p.Leu31Phe)	NEMP1 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193478	NM_001130963.2(NEMP1):c.86G>C (p.Arg29Pro)	NEMP1 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276939	NM_001130963.2(NEMP1):c.73G>A (p.Gly25Ser)	NEMP1 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358932	NM_001130963.2(NEMP1):c.67G>C (p.Gly23Arg)	NEMP1 (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344005	NM_001130963.2(NEMP1):c.49C>T (p.Pro17Ser)	NEMP1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193445	NM_001130963.2(NEMP1):c.32C>T (p.Pro11Leu)	NEMP1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549459	NM_001130963.2(NEMP1):c.28T>C (p.Ser10Pro)	LOC130008112, NEMP1 (S10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 38